RESEARCH ARTICLE

Improving the Diagnosis of Underrecognized, Rare Diseases in Asian Populations: Systematic Analysis of Rare Disease Databases

Daphne Ih^1,2, Kiana Amaral^1,3, Haoming Shi^1,4, Armaan Jamal¹, Nicholas Kikuta¹, Gavin Martin⁵, Lily Yuxi Ren⁶, Malathi Srinivasan^1,7, Latha Palaniappan^1,7 and Linda N. Geng^1,7

¹Stanford Center for Asian Health Research and Education (CARE), Stanford University School of Medicine, Palo Alto, CA, USA; ²College of Arts and Sciences, Department of Neuroscience and Behavioral Biology, Emory University, Atlanta, GA, USA; ³University of California Davis School of Medicine, Sacramento, CA, USA; ⁴Rice University, Department of Statistics, Houston, TX, USA; ⁵Meharry Medical College School of Medicine, Nashville, TN, USA; ⁶Lane Medical Library, Stanford University School of Medicine, Palo Alto, CA, USA; ⁷Division of Primary Care and Population Health, Stanford University School of Medicine, Palo Alto, CA, USA

Rare diseases affect approximately 30 million Americans, but fewer than one in 10 of these patients receive an accurate diagnosis and timely appropriate treatment. Many of these medical conditions disproportionately impact patients of Asian descent as well as other racial and ethnic minorities; however, at the time of this writing, they are not well recognized or sufficiently represented in current medical training curricula or existing scientific literature. To better assess these disparities, we conducted a systematic analysis of the National Organization for Rare Disorders (NORD) and Genetic and Rare Diseases (GARD) Information Center databases to identify rare diseases that are often misdiagnosed in individuals of Asian descent, as well as scientific studies through the PubMed search engine that discuss racial and ethnic disparities in rare clinical diagnoses. Searches in the NORD and GARD databases yielded 52 medical conditions with reported disproportionate prevalence across Asian populations. A subsequent PubMed search regarding these 52 medical conditions identified 133 articles relevant to the potential misdiagnosis and underrecognition of these rare diseases. Overall, there is a paucity of literature on rare diseases, and our findings highlight the need for more research on underrecognized rare diseases that disproportionately impact Asian populations. Future educational programs for medical trainees and practitioners should increase focus on rare diseases in racial and ethnic minority groups to improve diagnosis and minimize disparities in health outcomes.

Key Words: Rare Diseases ◾ Asian Health ◾ Diagnosis ◾ Misdiagnosed Conditions ◾ Health Disparities ◾ Equity

 

 

Rare diseases are medical conditions that affect fewer than one in 200,000 people in the U.S (1). Among the approximately 30 million Americans affected by rare diseases, less than one in 10 receive a correct diagnosis and necessary medical treatment (2). Many of these conditions impact Asians, who comprise approximately 7% of the total U.S. population (3), and are projected to become the largest racial and ethnic minority group in the country by mid-century (4, 5). However, across clinical and self-reported metrics, the health status of Asian Americans lags behind their Non-Hispanic White (white) counterparts (6) for numerous reasons. Historically, Western medical literature and education have not focused on rare diseases, especially those that may disproportionately affect people of non-Western descent. Race and ethnicity are social constructs, and those identifying as ‘Asian’ encompass a large and heterogenous group of diverse backgrounds and cultural identities. These individuals may be at risk for certain conditions due to a complex interplay of biological, genetic, demographic, geographic, and sociocultural factors. With respect to Asians emigrating to the U.S., disease susceptibility can be further nuanced by prenatal and pediatric care, infectious exposures, vaccination history, and adult healthcare received prior to immigration. Patients may also be unaware of previously contracted medical conditions that can persist for years without presenting clinical symptoms. Failure to account for the complexity of these circumstances can lead to incorrect or delayed diagnoses and, therefore, inappropriate or lack of treatment with the potential for patient harm (7–9).

POPULAR SCIENTIFIC SUMMARY

• Systematic search of rare disease databases identified 52 medical conditions that can occur at higher rates in Asian populations.
• Some of these rare diseases are not so rare in Asian countries.
• These rare diseases can be underrecognized and misdiagnosed in the United States and other Western countries.

Minority health status is often compromised by institutionalized inequities in employment, income, and education (6, 10–14), as well as the perseverance of cultural norms that discourage healthcare utilization (10, 12–17). Nonetheless, the prevalent ‘model minority’ myth attributed to Asian Americans masks the distinct challenges of Asians, resulting in the under-emphasis and misreporting of Asian health problems in Western medical literature (11, 13). This knowledge gap can manifest in medical training curricula, and ultimately healthcare provider behavior when treating minority patients (6, 12, 13, 15). Non-Asian health data are often inappropriately applied to Asians, resulting in erroneous generalizations with dire health consequences.

The overall goal of this study is to improve the recognition of rare and potentially neglected conditions in the U.S., which may disproportionately impact patients of Asian descent. While some medical conditions may commonly present in certain areas of Asia, they may be underrecognized, underdiagnosed, or misdiagnosed in the U.S., where they are infrequently seen by clinicians. At present, these racial and ethnic disparities in clinical diagnoses remain largely unexplored. To our knowledge, no study has systematically indexed medical conditions that are commonly misdiagnosed in Asians in the U.S. Therefore, the objectives of this study are to: (1) identify rare diseases in the U.S. that disproportionately affect Asian populations and (2) review published literature that relates to the concept of misdiagnosis of these disproportionately represented rare diseases. The results of this study along with the review of current research raise awareness for these conditions and can help clinicians improve differential diagnoses to optimize care for diverse patient populations (8).

METHODS

Information sources and search strategy

The systematic analysis approach undertaken in this study follows the framework of PRISMA-ScR (18) (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) (Fig. 1). We first examined disease reports in NORD (National Organization for Rare Diseases) (19) and its related database, GARD (Genetic and Rare Diseases Information Center) (2), for rare diseases that affect fewer than 200,000 people (1). From June to October 2021, authors KA, GM, and LG conducted initial searches in NORD and GARD using a bank of terms developed by LR to highlight Asian ancestry (Fig. S1). Traditional Boolean operators and logical constraints were unreliable or non-functional in both databases; search queries were limited to one or two keywords, and NORD and GARD searches were performed in parallel to identify differences between the two sets of results. All non-duplicate disease reports from NORD and GARD were compiled in Microsoft Excel 2019 version 16.75.2 (23071901) (20) by DI for independent review. Afterward, the remaining rare medical conditions were incorporated into a standardized PubMed search framework to identify scientific literature relevant to the misdiagnosis of each disease (Fig. S2). Authors DI, KA, HS, and LG conducted PubMed searches from October 2021 to January 2023 and DI organized results in Excel for additional independent review (Table S1). To supplement the paucity of epidemiological information about rare diseases, additional references were searched ad-hoc or snowball-sampled from systematically identified PubMed literature. These are noted separately in the results table under the column titled, ‘Associated Asian population(s)’ (Table 2).

Table 1. Inclusion and exclusion criteria for NORD/GARD disease report screening and PubMed full-text study screening.

Screening round	Inclusion	Exclusion
NORD/GARD screening	The disease is not commonly diagnosed in the U.S. because it affects fewer than 200,000 people (1).	The disease is commonly diagnosed in the U.S. because it affects more than 200,000 people.
	The disease demonstrates varied prevalence across racial and ethnic groups.	The disease demonstrates no differences in prevalence in Asian populations.
		There is insufficient information to determine population differences, or there is no clear relation to the population(s) of interest.
		The disease predominantly affects individuals of European descent.
		The disease predominantly affects children.
PubMed screening	The paper was published within the last 20 years.	The paper was published more than 20 years ago.
	The paper primarily discusses (mis)diagnosis in adult patients.	The paper primarily discusses diagnosis in pediatric patients.
	The paper is available in English.	The paper is not available in English.

 

Table 2. Rare diseases frequently misdiagnosed in Asian patients.

Dx (hyperlinked)	NORD/GARD URL	Dx description	Relevant PubMed literature	Associated Asian* population(s)
Acquired aplastic anemia	https://rarediseases.org/rare-diseases/acquired-aplastic-anemia/	Blood disorder caused by bone marrow failure, often due to autoimmunity.	Iftikhar et al., 2021 (22)	Chinese, Israeli, Malaysian, Thai (23–25)
Alpha thalassemia	https://rarediseases.org/rare-diseases/alpha-thalassemia/	Refers to various genetic blood disorders that cause dysfunctional or absent hemoglobin alpha subunits, which clinically manifest as anemia.	Hamali & Saboor, 2019 (26) Shahid et al., 2017 (27)	Cambodian, Laotian, Malaysian, Middle Eastern (West Asian), Thai
Alport syndrome	https://rarediseases.org/rare-diseases/alport-syndrome/	Genetic disorder associated with chronic kidney disease and ocular-auditory dysfunction. Specific signs and symptoms vary depending on the type of genetic inheritance.	Chen et al., 2021 (28) Wang et al., 2022 (29) Yao et al., 2012 (30) Żurawski et al., 2016 (31)	Middle Eastern (West Asian), Southeast Asian
Autosomal dominant hereditary (spinocerebellar) ataxia	https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/	Genetic neurological disorders characterized by brain/spinal cord degeneration, leading to loss of motor control and speech deficits.	Pedroso et al., 2015 (32)	Chinese, Japanese, Korean, Indian (33–35)
Balo disease (concentric sclerosis)	https://rarediseases.org/rare-diseases/balo-disease/	Rapidly progressive variant of multiple sclerosis caused by demyelination in the brain and spinal cord.		Chinese, Filipino (36)
Banti’s syndrome	https://rarediseases.org/rare-diseases/bantis-syndrome/	Premature destruction of red blood cells by the spleen, typically accompanied by splenomegaly and hypertension.		Indian, Japanese (37)
Behçet’s syndrome	https://rarediseases.org/rare-diseases/behcets-syndrome/	Idiopathic multi-system inflammatory disorder producing oral and genital ulcers, skin lesions, and ocular abnormalities, among numerous other symptoms.	Sbroglio et al., 2021 (38)	Arabic, Chinese, Iranian, Japanese, Korean, Turkish
Beta thalassemia	https://rarediseases.org/rare-diseases/thalassemia-major/	Genetic blood disorder that presents with low levels of functional hemoglobin and abnormal erythrocytes. The degree of anemia depends on the disease subtype (minor, intermedia, and major).	Islam et al., 2021 (39) Singha et al., 2021 (40) Rizzuto et al., 2021 (41) Rahim et al., 2020 (42)	Cambodian, Chinese, Indian, Middle Eastern (West Asian), South Asian, Southeast Asian (43)
Blastomycosis	https://rarediseases.org/rare-diseases/blastomycosis/	Contagious multisystem fungal infection that can have acute and/or chronic effects. The chronic form disproportionately affects the respiratory and integumentary systems.	Austin et al., 2021 (44) Ballestas et al., 2022 (45) Bethuel et al., 2020 (46) Kumar et al., 2019 (47) Kuzel et al., 2018 (48)	Chinese, Indian, Laotian, Vietnamese (49)
Brucellosis	https://rarediseases.org/rare-diseases/brucellosis/	Bacterial infection that can be transmitted to humans from livestock. The disease can remain localized or evolve with multisystem effects.	Fengzhen et al., 2021 (50) Güven, 2021 (51) Rozis et al., 2021 (52) Yan et al., 2021 (53) Zhai et al., 2021 (54)	East Asian, Middle Eastern (West Asian) (55, 56)
Brugada syndrome	https://rarediseases.org/rare-diseases/brugada-syndrome/	Autosomal dominant genetic disorder that disrupts the cardiac conduction system, producing arrhythmias and sudden death.	Chauveau et al., 2017 (57) Korlipara et al., 2021 (58) Smith et al., 2021 (59)	Japanese, Middle Eastern (West Asian), Thai (60)
Buerger’s disease (thromboangiitis obliterans)	https://rarediseases.org/rare-diseases/buergers-disease/	The occlusion of blood vessels in the extremities, most often in tobacco users. In its most severe form, it can lead to gangrene.	Baran et al., 2017 (61)	Indian, Israeli, Japanese, Korean, Middle East (West Asian) (62)
CARASIL	https://rarediseases.org/rare-diseases/carasil/	A genetically inherited form of cerebral subcortical arteriopathy that destroys myelin in the brain and spinal cord. Patients frequently experience stroke-like episodes with speech and motor deficits.	Bersano et al., 2021 (63) Kitahara et al., 2022 (64)	Chinese, Japanese (65, 66)
Cerebrotendinous xanthomatosis	https://rarediseases.org/rare-diseases/cerebrotendinous-xanthomatosis/	Autosomal recessive disorder causing cholesterol deposits in the nervous system, eyes, arteries, and tendons. Often associated with CHD, seizures, cognitive impairment, and ataxia.	Bajaj et al., 2013 (67) Cao et al., 2020 (68) Koyama et al., 2021 (69) Lee et al., 2019 (70) Sekijima et al., 2018 (71)	Chinese, Japanese, Iranian, Israeli (72, 73)
Chikungunya	https://rarediseases.org/rare-diseases/chikungunya/	Viral infection from mosquito bites that causes rash, fever, and severe joint pain (arthritic virus).	Cotella et al., 2021 (74) Ferede et al., 2021 (75) Hakami et al., 2021 (76) Mala et al., 2021 (77) Stubbs et al., 2020 (78)	Indian, Oceanian, Southeast Asian (79, 80)
Cholangiocarcinoma	https://rarediseases.org/rare-diseases/cholangiocarcinoma/	Bile duct cancers that can originate at various points inside or near the liver and its openings.	Liu et al., 2021 (81)	Indian
Cronkhite-Canada syndrome	https://rarediseases.org/rare-diseases/cronkhite-canada-syndrome/	Acquired intestinal disease characterized by polyps, ageusia, and abnormal nail growth.	Fan et al., 2016 (82) Slavik & Montgomery, 2014 (83)	Chinese, Japanese (84)
Cysticercosis	https://rarediseases.org/rare-diseases/cysticercosis/	Parasitic infection that can cause cysts in various parts of the body, often the nervous system and eyes.	Cantey et al., 2021 (85) Gupta et al., 2021 (86) Liu et al., 2021 (81) Lobo et al., 2021 (87) Wankhede et al., 2021 (88)	South Asian, Southeast Asian (89)
Dengue fever	https://rarediseases.org/rare-diseases/dengue-fever/	Acute viral infection transmitted by mosquito bites, with symptoms ranging from mild fever to fatal hemorrhage.	Jisamerin et al., 2021 (90) Umakanth & Suganthan, 2020 (91) Puthalath et al., 2021 (92)	Oceanian, South Asian, Southeast Asian (93–95)
Diffuse panbronchiolitis	https://rarediseases.org/gard-rare-disease/diffuse-panbronchiolitis/	Bronchiolitis coupled with chronic sinusitis that commonly presents with productive cough, shortness of breath, and drastic weight loss. Can quickly evolve to bronchiectasis, respiratory failure, and death.	Atici et al., 2005 (96) Chen et al., 2005 (97)	Japanese
Elephantiasis	https://rarediseases.org/rare-diseases/elephantiasis/	Gross enlargement of body parts due to excess lymph (severe lymphedema). Possible causes include lymphatic filariasis, STDs, tuberculosis, leishmaniasis, leprosy, and other bacterial infections.	Murthy, 2019 (98)	Indian
Encephalitis (Japanese)	https://rarediseases.org/rare-diseases/encephalitis-japanese/	Severe brain inflammation/damage caused by infection of Japanese B encephalitis virus, transmitted by mosquitoes.	Bharucha et al., 2018 (99) Hotez et al., 2015 (100) Tarantola et al., 2014 (101)	Japanese
Encephalitis (West Nile)	https://rarediseases.org/rare-diseases/west-nile-encephalitis/	(A)symptomatic illness caused by West Nile encephalitis virus, transmitted by mosquitoes.		East Asian, Middle Eastern (West Asian), South Asian (102)
Esophageal cancer	https://rarediseases.org/rare-diseases/esophageal-cancer/	Malignant cancers of the esophagus, typically originating in mucosal cells. The main types include squamous cell carcinoma and adenocarcinoma.	Ahmadi et al., 2020 (103) Kimura et al., 2020 (104) Nobel et al., 2020 (105) Visaggi et al., 2021 (106)	East Asian, Middle Eastern (West Asian) (107)
Factor XII deficiency	https://rarediseases.org/rare-diseases/factor-xii-deficiency/	Asymptomatic genetic blood disorder causing prolonged blood clotting due to deficiency of Hageman factor (XII). Typically does not cause a predisposition to prolonged bleeding, making it overall benign.		East Asian (108, 109)
Fascioliasis	https://rarediseases.org/rare-diseases/fascioliasis/	Parasitic liver infection from water-growing plants. Includes Halzoun Syndrome, a variant of fascioliasis that affects the pharynx.	Ahmad et al., 2021 (110) Caravedo & Cabada, 2020 (111) Dermauw et al., 2021 (112) Lee et al., 2021 (113) Siles-Lucas et al., 2021 (114)	Chinese, Egyptian, Japanese, Iranian, Oceanian, Vietnamese, Turkish (115, 116)
Filariasis	https://rarediseases.org/rare-diseases/filariasis/	Parasitic infection transmitted by mosquitoes that causes fever, lesions, and chronic lymphatic obstruction.	Mitchell et al., 2022 (117) Ngatse et al., 2022 (118)	Chinese, Indian, Southeast Asian (119, 120)
Gastrointestinal stromal tumors (GISTs) and stomach cancers	https://rarediseases.org/rare-diseases/gastrointestinal-stromal-tumors/	Malignant sarcomas that can originate in nerve cells anywhere along the gastrointestinal tract, with most occurring in the stomach or small intestine. Pathologically distinct from mycobacterial infections that cause tuberculosis and leprosy.	Chadwick et al., 2015 (121) Quinones et al., 2023 (122) Sung et al., 2011 (123) Tata et al., 2013 (124) Zheng et al., 2022 (125)	Chinese, Korean (126)
Glucose-6-phosphate dehydrogenase deficiency	https://rarediseases.org/rare-diseases/glucose-6-phosphate-dehydrogenase-deficiency/	Genetic metabolic disease that can be conditionally triggered to cause premature hemolysis, which clinically manifests as anemia.	C. Albayrak & D. Albayrak, 2015 (127) Palmer et al., 2020 (128) Tang et al., 2017 (129) Phillpotts et al., 2014 (130)	Chinese, Indian, Southeast Asian (131)
GNE Myopathy (HIBM, Nonaka myopathy, IBM2, etc.)	https://rarediseases.org/rare-diseases/gne-myopathy/	Autosomal recessive musculoskeletal disease causing progressive muscle weakness.	Awasthi et al., 2019 (132) Soule et al., 2018 (133)	Japanese, Persian Jewish
Hemoglobin E disease	https://rarediseases.org/gard-rare-disease/hemoglobin-e-disease/	Autosomal recessive blood disorder characterized by misshapen hemoglobin E and mild anemia.		Chinese, Sri Lankan, Thai (134, 135)
HTLV (Type I, II)	https://rarediseases.org/rare-diseases/htlv-type-i-and-type-ii/	Infection with HTLV-1 virus, which can evolve into a chronic neurologic disease that can take the form of acute T-cell leukemia/lymphoma (ATL) or HTLV-I associated myelopathy/tropical spastic paraparesis (HAM/TSP).		Japanese, Melanesian, Middle Eastern (West Asian)
Kennedy disease	https://rarediseases.org/rare-diseases/kennedy-disease/	X-linked neuromuscular disorder that primarily causes progressive muscle weakness and dysphagia.	Harutunian et al., 2013 (136) Paparounas et al., 2003 (137) Skoretz et al., 2012 (138) Yuan et al., 2016 (139)	Japanese
Keratomalacia	https://rarediseases.org/rare-diseases/keratomalacia/	Ocular disease caused by severe vitamin A deficiency, frequently compromising vision corneal texture (keratomalacia) bilaterally. Can evolve with gray deposits on the whites of the eyes (Bitot spots), ocular infection, rupture, and blindness.	Lai et al., 2014 (140)	South Asian, Southeast Asian (141, 142)
Kikuchi’s disease (histiocytic necrotizing lymphadenopathy)	https://rarediseases.org/rare-diseases/kikuchis-disease/	Benign lymph cancer causing enlarged, inflamed lymph nodes.	Cunha et al., 2009 (143) Mirgh et al., 2016 (144) Murali et al., 2014 (145) Rakesh et al., 2014 (146) Schofer et al., 2005 (147)	Japanese, Southeast Asian (148)
Kimura disease	https://rarediseases.org/gard-rare-disease/kimura-disease/	Idiopathic, noncancerous subcutaneous masses that appear in head and neck tissue. Also referred to as eosinophilic (lympho)granuloma and eosinophilic lymphofolliculosis, among many other names.	Gong et al., 2015 (149) Ye et al., 2015 (150) Zhang & Jiao, 2019 (151)	Chinese (152)
Leishmaniasis	https://rarediseases.org/rare-diseases/leishmaniasis/	Contagious parasitic infection transmitted by sand flies, which can manifest as cutaneous, mucosal, or visceral. The disease may present asymptomatically or with moderate to life-threatening complications.	Andrade et al., 2022 (153) Behniafar et al., 2021 (154) Ikedionwu et al., 2021 (155) Volpedo et al., 2021 (156)	Bangladeshi, Indian, Middle Eastern (West Asian), Nepalese
Leprosy	https://rarediseases.org/rare-diseases/leprosy/	Infectious human disease of the skin, mucosal membranes, and peripheral nerves that can lead to muscle paralysis, disfigurement, and blindness. Presents as tuberculoid (mild, localized), borderline (intermediate), or lepromatous (severe, diffuse).	Bernardes-Filho et al., 2021 (157) Sinha et al., 2021 (158) Swain et al., 2022 (159)	Bangladeshi, Burmese, Indian, Indonesian
Melioidosis	https://rarediseases.org/gard-rare-disease/melioidosis/	Bacterial infection obtained from contaminated soil and water, with a similar clinical presentation to tuberculosis and pneumonia.	Chatterjee et al., 2021 (160) Goarant et al., 2021 (161) Gopalakrishnan, 2021 (162) Veluthat et al., 2021 (163) Virk et al., 2020 (164)	South Asian, Southeast Asian (165)
Metachromatic leukodystrophy	https://rarediseases.org/rare-diseases/metachromatic-leukodystrophy/	Genetic neurodegenerative disease causing demyelination throughout the nervous system. All subtypes (late-infantile, juvenile, adult) cause intellectual, cognitive, and motor dysfunction.	Pekgül et al., 2020 (166) Politi et al., 2018 (167)	Middle Eastern (West Asian)
Miller Fisher syndrome	https://rarediseases.org/rare-diseases/miller-fisher-syndrome/	Acquired, acute autoimmune nerve disease that manifests after bacterial/viral infection, similar to Guillain-Barré syndrome. Presents with temporary ocular and motor dysfunction.	Martins et al., 2020 (168) Zeylikman et al., 2015 (169)	Japanese (170)
Moyamoya disease	https://rarediseases.org/rare-diseases/moyamoya-disease/	Progressive cerebrovascular disease causing simultaneous carotid artery occlusion and small ‘moyamoya’ vessel vasodilation. Presents like TIA or CVA (stroke). Disease can be acquired genetically, secondary to other concurrent disease or idiopathically.	Koul et al., 2021 (171) Ma et al., 2019 (172) Mohammadi et al., 2019 (173) Musa et al., 2021 (174) Sapra et al., 2020 (175)	Japanese
Nontuberculous mycobacterial lung disease	https://rarediseases.org/rare-diseases/nontuberculous-mycobacterial-lung-disease/	Refers to acute, acquired mycobacterial infections that do not cause tuberculosis or leprosy. Symptoms vary greatly across patients and organ systems, but the disease can become chronic.	Doyle et al., 2020 (176) Liu et al., 2022 (177)	Chinese, Filipino, Japanese, Korean, Vietnamese (178, 179)
Palmoplantar pustulosis	https://rarediseases.org/rare-diseases/palmoplantar-pustulosis/	Chronic, idiopathic inflammatory disorder presenting with painful, yellow blisters on hands and feet.	Huang & Tsai, 2020 (180) Su et al., 2011 (181)	Japanese
Pityriasis rotunda	https://rarediseases.org/gard-rare-disease/pityriasis-rotunda/	Skin disease causing round, scaly, pigmented patches on the trunk and limbs. Type 1 is malignant; type 2 is benign.		Japanese (182, 183)
Sickle cell disease	https://rarediseases.org/rare-diseases/sickle-cell-disease/	Autosomal recessive blood disorder causing crescent-shaped, stiff red blood cells that inhibit circulation (anemia). Left untreated, it can evolve to multisystem organ damage and failure.		Indian, Middle Eastern (West Asian)
Sitosterolemia	https://rarediseases.org/rare-diseases/sitosterolemia/	Autosomal recessive disease that prevents excretion of plant sterols.	Bastida et al., 2019 (184) Bazerbachi et al., 2017 (185) Okafor et al., 2022 (186)	Chinese, Japanese, Indian, Micronesian
Tropical sprue	https://rarediseases.org/rare-diseases/tropical-sprue/	Idiopathic digestive disease causing malabsorption in the small intestine and nutritional deficiencies.	Brown et al., 2014 (187)	Indian, Southeast Asian
Tularemia	https://rarediseases.org/rare-diseases/tularemia/	Bacterial infection transmitted by small mammals and arthropods. Most cases begin with rapid onset of flu-like symptoms, but subsequent symptoms vary across patients and affected organ systems.	Atmaca et al., 2009 (188) Calanan et al., 2010 (189) Donate-Pérez-Molino et al., 2019 (190) Maurin, 2020 (191) Sateia et al., 2017 (192)	Japanese, Turkish (193)
Typhoid	https://rarediseases.org/rare-diseases/typhoid/	Bacterial infection causing fever, weight loss, abnormal bowel movements, and internal bleeding, among other symptoms. Patients can be carriers long after recovery.	Esa et al., 2021 (194)	Chinese, Indian, Indonesian, Malaysian, Nepalese, Pakistani, Vietnamese (195–197)
Vogt-Koyanagi-Harada disease	https://rarediseases.org/gard-rare-disease/vogt-koyanagi-harada-disease/	Idiopathic ocular, auditory, nerve, and musculoskeletal disease that presents with vitiligo, alopecia, cataracts, and glaucoma.	Shoughy & Tabbara, 2019 (198) Yang et al., 2018 (199)	Chinese, Indian, Japanese, Thai (200, 201)
X-linked dystonia-parkinsonism (Lubag)	https://rarediseases.org/gard-rare-disease/x-linked-dystonia-parkinsonism-lubag/	Neurodegenerative disorder causing unintended motor movements as a result of adult-onset Parkinsonism and/or focal dystonia.		Filipino (202)
*‘Asian’ is defined as people with ancestries from East Asia (China, Japan, Korea, Mongolia); South Asia (Bangladesh, Bhutan, India, Nepal, Sri Lanka); Southeast Asia (Cambodia, Indonesia, Laos, Malaysia, Philippines, Singapore, Thailand, Timor-leste, Vietnam); West Asia and the Middle East (Afghanistan, Bahrain, Egypt, Iraq, Israel, Jordan, Kuwait, Lebanon, Oman, Pakistan, Palestine, Qatar, Saudi Arabia, Syria, Turkey, United Arab Emirates, Yemen); Oceania and the greater Pacific Islands (Melanesia, Micronesia, Polynesia). Melanesia includes Fiji, New Caledonia, Papua New Guinea, Solomon Islands, and Vanuatu. Micronesia includes the Federated States of Micronesia, Guam, Kiribati, Marshall Islands, Nauru, Northern Mariana Islands, and Palau.

Figure 1. PRISMA-ScR flowchart.
*National Organization for Rare Disorders (NORD).
†Genetic and Rare Diseases (GARD).

Eligibility criteria and data selection

While reviewing NORD and GARD disease reports, diagnostic disparities were inferred from quantitative and qualitative data of racial and ethnic differences in disease burden, as well as low reported disease prevalence in the U.S. NORD and GARD results were filtered in two rounds of screening: (1) authors KA, DI, and HS removed duplicates and individually marked the remaining results for inclusion or exclusion, and then (2) author LG reviewed all comments to affirm, clarify, or alter prior suggestions about the relevance of each medical condition. This two-step process was repeated while generating and reviewing resultant PubMed studies about the approved diseases.

Eligibility criteria for searches (Table 1) were developed by LG and LR and approved by all authors. During NORD and GARD screening, diseases were accepted for PubMed search queries based on evidence of varied prevalence across racial and ethnic groups, as well as uncommon diagnoses in Asians. For the purposes of this study, a ‘rare’ disease affects fewer than 200,000 people in the U.S. as per the FDA and Orphan Drug Act (1). Reasons for disease exclusion are shown in Table 1 and Fig. 1. PubMed search results were limited to papers about misdiagnosis in Asian adults published within the last 20 years (i.e. after and including 2003), written or translated into the English language. A maximum of five pieces of eligible literature were recorded per medical condition.

Data extraction and synthesis

Author KA developed a web-parsing code in Python 3.8.11 (21) to conduct iterative searches with LR’s search terms. Each search query generated a separate Excel spreadsheet with data columns organized according to the online formatting of NORD and GARD (Table S2). Eligibility decisions were based on information about the racial, ethnic, and geographic distribution of diseases from NORD and GARD; in cases where NORD and GARD provided ambiguous or insufficient descriptions, outside scientific sources were used to facilitate inclusion and exclusion decisions. Eligible PubMed search results were organized in Excel by disease, search date, and article sourcing information.

RESULTS

In our systematic search through the NORD and GARD databases, we found 52 rare diseases that had associations with Asian populations (Fig. 1 and Table 2). This count includes two categories (‘Autosomal dominant (spinocerebellar) hereditary ataxia’ and ‘Gastrointestinal stromal tumors & stomach cancers’) representing four distinct NORD and GARD entries (‘Autosomal dominant hereditary ataxia’, ‘Spinocerebellar ataxia 31’, ‘Gastrointestinal stromal tumors’, and ‘stomach cancer’) that were individually searched in PubMed and then condensed due to etiological and pathological similarity.

The majority (93%) of the initial rare disease search results came from the NORD database, and the remaining from GARD. Broader keywords that encompassed continents (‘Asia’), larger regions (‘Middle East’ and ‘Pacific Island’), and race (’Asian’) returned relatively more results from NORD and GARD than those describing countries, territories (‘Gaza’ and ‘West Bank’), cities (‘Abu Dhabi’), and nationalities/ethnicities (‘Chinese’, ‘Filipino’, ‘Indian’, ‘Japanese’, and ‘Korean’). Some rare conditions were associated with specific Asian countries (e.g. China and Japan) or regions (e.g. Middle East), while others had a general Asian association. Japan, India, and China were the Asian countries with the most associations with the list of rare diseases based on this systematic search. Notably, some Asian populations that were not explicitly searched in NORD/GARD were also implicated in rare disease epidemiology based on descriptions from NORD/GARD and supplemental sources. Examples include blastomycosis in the Vietnamese; leprosy among the Burmese; GNE myopathy in the Persian Jewish; HTLV in Melanesians; sitosterolemia in Micronesians. Out of the 48 total keyword searches that we conducted in the NORD and GARD databases, 12 queries did not generate search results: ‘Abu Dhabi’, ‘Bahrain’, ‘Bhutan’, ‘Gaza’, ‘Indoneasia’, ‘Jordan’, ‘Laos’, ‘Pacific Island’, ‘Palestine’, ‘Qatar’, ‘Timor-leste’, and ‘West Bank’. However, ‘Indonesia’ produced 1 NORD entry.

Many of the rare conditions associated with Asian populations are not that rare in certain parts of the world and may even be relatively common in some Asian countries – for example, Behçet’s syndrome, cysticercosis, and alpha and beta thalassemias. The rare diseases in our resulting search list include several genetically inherited conditions (e.g. Alport syndrome, Brugada syndrome, CARASIL, and GNE myopathy) and infectious diseases (e.g. blastomycosis, encephalitis, and leishmaniasis). Others are rheumatologic (e.g. Behçet’s syndrome), hematologic (e.g. factor XII deficiency), metabolic (e.g. glucose-6-phosphate dehydrogenase deficiency), or oncological (e.g. cholangiocarcinoma).

In the PubMed database, we identified 128 studies that discuss the misdiagnosis and underrecognition of the rare diseases identified in NORD and GARD (Table 2). On average, each rare disease generated 109 PubMed studies within the search framework and two accepted references. There are 11 rare diseases with five accepted references, the maximum number allotted per medical condition in our study. There was a paucity of literature on many of these rare conditions, especially as it related to clinical diagnostics such as misdiagnosis and population demographic considerations for diagnosis. For example, 10 of the 52 conditions yielded zero relevant PubMed search results based on our MeSH search terms alone, either because (1) no results were produced within the search framework (‘Autosomal dominant hereditary ataxia’, ‘Balo disease’, ‘Banti’s syndrome’, ‘Hemoglobin E disease’, and ‘Pityriasis rotunda’), or (2) none of the extant research met the PubMed screening criteria (‘Encephalitis (West Nile)’, ‘Factor XII deficiency’, ‘HTLV Type I and II’, ‘Sickle cell disease’, and ‘X-linked dystonia-Parkinsonism/Lubag’). For a given disease, the highest ratio of generated PubMed results to the number of included literature pieces was about 100:1 (‘Brucellosis’ and ‘Filariasis’). Many NORD and GARD entries for the accepted rare diseases also contained minimal to no racial/ethnic distribution data, and additional research was required to further elucidate the epidemiology of affected Asian populations (Table 2).

DISCUSSION

Our systematic analysis and review of the NORD and GARD rare disease databases identified rare diseases that disproportionately impact Asian populations and may be underrecognized and misdiagnosed. These 52 rare diseases span from hereditary conditions such as autosomal dominant hereditary ataxia, to infectious diseases such as melioidosis, to rheumatologic conditions such as Behçet’s disease, and to neoplasms such as gastrointestinal stromal tumors and stomach cancers. Although we believe our search efforts were robust, as of the writing of this study, there is a paucity of research and medical education regarding rare diseases, particularly for these conditions that disproportionately affect individuals of Asian descent.

While the exact reasons for the differences in the prevalence of rare diseases among Asian populations are not fully understood (nor are they within the scope of this review), it is likely that genetic, environmental, demographic, geographic, and sociocultural factors exert varying and manifold influence in some or many of the conditions. Many rare diseases are caused by genetic mutations. As another example, certain genetic mutations might be more common in specific populations due to ancestral heritage and geographic distributions of these populations (203–206). Furthermore, cultural practices such as consanguineous marriage are associated with increased rates of certain inherited genetic conditions, particularly autosomal recessive conditions (207). For instance, diseases such as type 2 diabetes mellitus; breast, colorectal, prostate, and lung cancers; anemia, thalassemia, and cardiovascular diseases; as well as hearing deficits are known to be associated with consanguinity in Asian countries (208, 209). Additionally, environmental factors can influence the development of rare diseases (210, 211). Exposure to various toxins, chemicals, infections, or dietary elements may heighten the risk of specific rare diseases, creating differences in their prevalence across populations (212, 213). For instance, the consumption of pickled vegetables and salted fish has been shown to be associated with onset of gastric cancer in Asian populations (214, 215).

A major challenge we found in conducting this study is the paucity of data and literature in this area, which may be due to several reasons. One primary reason is the relatively lower prevalence of these diseases in Western populations, resulting in limited awareness, focus, and funding for such research. Unfortunately, some of these conditions are recognized as blind spots and labeled as ‘neglected’ conditions (216). There is also relatively lower funding and resources for rare diseases in general, which is a challenge to advance the collective knowledge and care for patients suffering from these conditions (217). Additionally, cultural and language barriers pose significant obstacles, hindering the dissemination of information and collaboration between researchers from different regions (218). Moreover, some Asian cultures associate a stigma with certain health conditions, leading patients to be hesitant in disclosing their symptoms or seeking medical help due to fear of judgment or discrimination (219).

The PubMed search results demonstrate that many of these conditions are susceptible to misdiagnosis (Table 2). Misdiagnoses are a critical concern as they can lead to delayed or ineffective treatments, exacerbating the suffering of patients and hindering efforts to maintain functionality, obtain a cure, recover, or otherwise achieve effective disease management. It is imperative for healthcare institutions, funding agencies, and researchers worldwide to prioritize strategies and studies to address misdiagnosis and health disparities among diverse populations. Collaborative efforts between medical centers in Western countries and those in Asian regions could facilitate information exchange, enhance research capacities, and promote more inclusive clinical trials and studies. Moreover, raising awareness among the general public and healthcare providers about the prevalence and specific manifestations of these rare diseases in Asian populations is paramount. This can lead to earlier diagnosis, appropriate treatment, and better patient outcomes.

Our study had several limitations, including database limits, record keeping practices, and varying country-by-country case definitions for rare diseases. NORD and GARD provide information on many rare diseases but do not index all rare diseases. While there are estimated to be more than 10,000 rare diseases globally, NORD and GARD only index 1,200 and 7,000, respectively (2, 19, 220). The results are limited by the search terms used in the study, and we may have missed certain relevant rare diseases in the databases. For example, infections such as tuberculosis (221) and strongyloidiasis (222) and rheumatologic conditions such as IgG4-related disease (223), Familial Mediterranean Fever (224, 225), and Takayasu arteritis (226) may disproportionately impact Asian populations depending on exposures and sociodemographic risk factors. Other limitations include the variable standards and reliability of record keeping of rare diseases within other countries (227). The recognition, diagnosis, and recording practices across different countries and health systems can also impact the reported prevalence of rare diseases. The majority of the data in this study came from China, Japan, and India, potentially limiting the study’s breadth. In regions where medical professionals are more familiar with certain rare conditions, they may diagnose them more frequently, leading to apparent higher prevalence in those areas. A condition may be more prevalent in reality than it appears in the literature but may not be well-captured by diagnosis or recording mechanisms. Additionally, our search strategy was conducted in English, and, therefore, publications in other languages may not have been captured well. Moreover, limited access to healthcare facilities and medical expertise in certain regions can affect the diagnosis and reporting of rare diseases, potentially underestimating their true prevalence (228). Studying the factors contributing to these differences can lead to improved diagnosis, treatment, and prevention strategies for affected individuals worldwide. This study was also limited by the exclusion of the pediatric conditions that constitute a significant population of rare diseases, especially genetically inherited and congenital conditions.

This study is the first to systematically analyze rare disease databases to identify rare conditions in the U.S., which disproportionately affect Asian populations and review their potential for misdiagnosis. We also underscore and review the disparities and misdiagnoses that have been reported to occur among Asian patients. This report adds to the paucity of literature in the subject of rare diseases, especially for diverse populations, and can inform medical curricula development and health professional training to improve Asian health outcomes.

The findings of this study underscore the pressing need for enhanced awareness, research, and medical education concerning rare diseases in Asian communities. It is vital for healthcare professionals, particularly those practicing in regions with significant Asian populations, to be equipped with the knowledge and resources essential for accurate recognition and diagnosis of these conditions. Furthermore, our work will serve as a crucial source of information to inform precision medicine techniques for diagnosing rare diseases in Asian populations. By providing nuanced insights into clinical diagnoses, this research lays the foundation for improving education and ultimately enhancing health outcomes for Asian individuals, and by extrapolation of methods, the health status of all peoples. In recognizing that Asian patients come from diverse backgrounds and possess specific needs, precision medicine offers a powerful means of personalizing healthcare. By tailoring treatments to the individual genetic, cultural, geographic, and environmental exposures and profiles of Asian patients, we can avoid the pitfalls of one-size-fits-all approaches and better ensure the delivery of the most suitable and effective evidence-based care.

Future directions and next steps of this work hold immense promise in advancing our understanding and support for individuals with rare disorders. Drawing on the valuable insights from this scoping review, researchers should direct their attention to the diagnostic barriers of rare diseases in Asian populations, with a specific focus on the influential factors. These factors encompass the impact of culture, language, medical provider and patient education, economic and financial considerations, as well as the role of social determinants of health. By thoroughly examining how these elements interplay, researchers can better understand and address the challenges that influence health outcomes in Asian populations affected by rare diseases. Additionally, while the current work focused on the recognition of rare diseases in adult Asian populations toward improved diagnosis, future research should expand these investigations to include pediatric and other racial and ethnic populations.

Data availability statement

The source data were derived from the following database resources available in the public domain: National Organization for Rare Disorders (NORD) at https://rarediseases.org/ and Genetic and Rare Diseases Information Center (GARD) at https://rarediseases.info.nih.gov/. The web-parsing search algorithm developed in Python is available on GitHub at https://github.com/ihdaph/CARE21RareDx.

Acknowledgments

The authors thank the contributions to and support of this work by the Stanford Consultative Medicine clinical diagnostic team, the Stanford PRESENCE Center and its Racial Justice Lab initiative, in particular Sonoo Thadaney Israni and the multidisciplinary collaborative, as well as Dr. Kari Nadeau.

REFERENCES

1. FDA. Rare Diseases at FDA. FDA; 2022. Available from: https://www.fda.gov/patients/rare-diseases-fda [cited 13 August 2023].
2. GARD. Genetic and Rare Diseases Information Center. Available from: https://rarediseases.info.nih.gov/about [cited 12 August 2023].
3. Greenwood S. Appendix: Demographic Profile of Asian American Adults. Pew Research Center Race & Ethnicity; 2023. Available from: https://www.pewresearch.org/race-ethnicity/2023/05/08/asian-american-identity-appendix-demographic-profile-of-asian-american-adults/ [cited 7 September 2023].
4. Budiman A. Key Findings about U.S. Immigrants. Pew Research Center; 2020. Available from: https://www.pewresearch.org/fact-tank/2020/08/20/key-findings-about-u-s-immigrants/ [cited 27 June 2021].
5. Budiman A, Tamir C, Mora L, Noe-Bustamante L. Facts on U.S. Immigrants, 2018. Pew Research Center’s Hispanic Trends Project; 2020. Available from: https://www.pewresearch.org/hispanic/2020/08/20/facts-on-u-s-immigrants/ [cited 27 June 2021].
6. Institute of Medicine (US) Committee on Understanding and Eliminating Racial and Ethnic Disparities in Health Care, Geiger JH. Racial and ethnic disparities in diagnosis and treatment: a review of the evidence and a consideration of the causes. In: Smedley BD, Stith AY, Nelson AR, eds. Unequal Treatment: Confronting Racial and Ethnic Disparities in Health Care. National Academies Press (US); 2003. Available from: https://www.ncbi.nlm.nih.gov/books/NBK220337/ [cited 28 March 2024].
7. Geng L, Conway D, Barnhart S, Nowatzky J. Behcet’s disease with major vascular involvement. 2013. Available from: https://pubmed.ncbi.nlm.nih.gov/24214153/ [cited 19 August 2021].
8. Wilson ME. Diseases by country of origin. In: Walker PF, Barnett ED, eds. Immigrant Medicine. Edinburgh: W.B. Saunders; 2007, pp. 189–216.
9. Summer AP, Stauffer W. Diseases by race/ethnicity. In: Walker PF, Barnett ED, eds. Immigrant Medicine. Edinburgh: W.B. Saunders; 2007, pp. 217–32.
10. Hibbard JH, Greene J, Becker ER, Douglas R, Painter MW, Perez DJ, Burbank-Schmitt E, Tusler M. Racial/ethnic disparities and consumer activation in health. Health Aff Proj Hope. 2008;27(5):1442–53. doi: 10.1377/hlthaff.27.5.1442
11. Kim EJ, Kim T, Conigliaro J, Liebschutz JM, Paasche-Orlow MK, Hanchate AD. Racial and ethnic disparities in diagnosis of chronic medical conditions in the USA. J Gen Intern Med. 2018;33(7):1116–23. doi: 10.1007/s11606-018-4471-1
12. Kirby J, Berdahl T, Stone R. Perceptions of patient-provider communication across the six largest Asian subgroups in the USA. J Gen Intern Med. 2021;36:888–93. doi: 10.1007/s11606-020-06391-z
13. Sue D, Sue S. Cultural factors in the clinical assessment of Asian Americans. J Consult Clin Psychol. 1988;55(4):479. doi: 10.1037/0022-006X.55.4.479
14. Tsoy E, Kiekhofer RE, Guterman EL, Tee BL, Windon CC, Dorsman KA, Lanata SC, Rabinovici GD, Miller BL, Kind AJH, et al. Assessment of racial/ethnic disparities in timeliness and comprehensiveness of dementia diagnosis in California. JAMA Neurol. 2021;78(6):657–65. doi: 10.1001/jamaneurol.2021.0399
15. Jones RS, Chow TW, Gatz M. Asian Americans and Alzheimer’s disease: assimilation, culture, and beliefs. J Aging Stud. 2006;20(1):11–25. doi: 10.1016/j.jaging.2005.01.001
16. Palmer NRA, Kent EE, Forsythe LP, Arora NK, Rowland JH, Aziz NM, Blanch-Hartigan D, Oakley-Girvan I, Hamilton AS, Weaver KE. Racial and ethnic disparities in patient-provider communication, quality-of-care ratings, and patient activation among long-term cancer survivors. J Clin Oncol. 2014;32(36):4087–94. doi: 10.1200/JCO.2014.55.5060
17. Nadimpalli SB, Hutchinson MK. An integrative review of relationships between discrimination and Asian American health. J Nurs Scholarsh. 2012;44(2):127–35. doi: 10.1111/j.1547-5069.2012.01448.x
18. Tricco AC, Lillie E, Zarin W, O’Brien KK, Colquhoun H, Levac D, Moher D, Peters MDJ, Horsley T, Weeks L, et al. PRISMA extension for scoping reviews (PRISMA-ScR): checklist and explanation. Ann Intern Med. 2018;169(7):467–73. doi: 10.7326/M18-0850
19. List of Rare Disease Information. NORD (National Organization for Rare Disorders). Available from: https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/ [cited 27 October 2021].
20. Microsoft Excel Spreadsheet Software (Microsoft 365). Available from: https://www.microsoft.com/en-us/microsoft-365/excel [cited 7 August 2023].
21. Van Rossum G, Drake FL. Python 3 Reference Manual. Scotts Valley, CA: CreateSpace; 2009.
22. Iftikhar R, Ahmad P, de Latour R, Dufour C, Risitano A, Chaudhri N, Bazarbachi A, De La Fuente J, Höchsmann B, Ahmed SO, et al. Special issues related to the diagnosis and management of acquired aplastic anemia in countries with restricted resources, a report on behalf of the Eastern Mediterranean blood and marrow transplantation (EMBMT) group and severe aplastic anemia working party of the European Society for blood and marrow transplantation (SAAWP of EBMT). Bone Marrow Transplant. 2021;56(10):2518–32. doi: 10.1038/s41409-021-01332-8
23. Montané E, Ibáñez L, Vidal X, Ballarín E, Puig R, García N, Laporte JR. Epidemiology of aplastic anemia: a prospective multicenter study. Haematologica. 2008;93(4):518–23. doi: 10.3324/haematol.12020
24. Young NS, Kaufman DW. The epidemiology of acquired aplastic anemia. Haematologica. 2008;93(4):489–92. doi: 10.3324/haematol.12855
25. Kojima S. Why is the incidence of aplastic anemia higher in Asia? Expert Rev Hematol. 2017;10(4):277–9. doi: 10.1080/17474086.2017.1302797
26. Hamali HA, Saboor M. Undiagnosed hemoglobinopathies: a potential threat to the premarital screening program. Pak J Med Sci. 2019;35(6):1611–15. doi: 10.12669/pjms.35.6.976
27. Shahid S, Nadeem M, Zahid D, Hassan J, Ansari S, Shamsi T. Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population. Pak J Med Sci. 2017;33(2):411–16. doi: 10.12669/pjms.332.11834
28. Chen X, Ye N, Zhang L, Zheng W, Cheng J, Gong M. Functional assessment of a novel COL4A5 splicing site variant in a Chinese X-linked Alport syndrome family. Ann Transl Med. 2021;9(18):1420. doi: 10.21037/atm-21-3523
29. Wang S, Shao Y, Wang Y, Lu J, Shao L. Identification of four novel COL4A5 variants and detection of splicing abnormalities in three Chinese X-linked Alport syndrome families. Front Genet. 2022;13:847777. doi: 10.3389/fgene.2022.847777
30. Yao XD, Chen X, Huang GY, Yu YT, Xu ST, Hu YL, Wang QW, Chen HP, Zeng CH, Ji DX, et al. Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis. Orphanet J Rare Dis. 2012;7:100. doi: 10.1186/1750-1172-7-100
31. Żurawski J, Burchardt P, Seget M, Moczko J, Woźniak A, Grochowalski M, Salwa-Żurawska W. Difficulties in differentiating thin basement membrane disease from Alport syndrome. Pol J Pathol Off J Pol Soc Pathol. 2016;67(4):357–63. doi: 10.5114/pjp.2016.65869
32. Pedroso JL, Abrahao A, Ishikawa K, Raskin S, de Souza PVS, de Rezende Pinto W, Braga-Neto P, de Albuquerque M, Mizusawa H, Barsottini OGP. When should we test patients with familial ataxias for SCA31? A misdiagnosed condition outside Japan? J Neurol Sci. 2015;355(1–2):206–8. doi: 10.1016/j.jns.2015.05.016
33. van Prooije T, Ibrahim NM, Azmin S, van de Warrenburg B. Spinocerebellar ataxias in Asia: prevalence, phenotypes and management. Parkinsonism Relat Disord. 2021;92:112–18. doi: 10.1016/j.parkreldis.2021.10.023
34. Bhandari J, Thada PK, Samanta D. Spinocerebellar Ataxia. In: StatPearls. StatPearls Publishing; 2023. Available from: http://www.ncbi.nlm.nih.gov/books/NBK557816/ [cited 13 July 2023].
35. Sullivan R, Yau WY, O’Connor E, Houlden H. Spinocerebellar ataxia: an update. J Neurol. 2019;266(2):533–44. doi: 10.1007/s00415-018-9076-4
36. Hardy TA, Miller DH. Baló’s concentric sclerosis. Lancet Neurol. 2014;13(7):740–6. doi: 10.1016/S1474-4422(14)70052-3
37. Waqar SN, Jindhani S, Baig NS, Waqar MA, Ismail FW, Tariq M. Banti’s syndrome: case report and review of literature. J Pak Med Assoc. 2004;54(2):99–101.
38. Sbroglio LL, de Araújo KM, Santos BPLD, Gripp AC. Case for diagnosis. Ulcerated lesions: a diagnostic challenge in Behçet’s syndrome. An Bras Dermatol. 2021;96(4):494–6. doi: 10.1016/j.abd.2021.01.002
39. Islam MM, Hossain F, Sakib N, Zeba Z, Bhuiyan AKMI, Mamun MA, Kaggwa MM, Yoshimura K, Afrin S, Selim S, et al. Distribution of β-Thalassemia and other hemoglobinopathies in Bangladeshi university students and ready-made garment workers. Risk Manag Healthc Policy. 2021;14:2707–14. doi: 10.2147/RMHP.S317852
40. Singha K, Fucharoen G, Fucharoen S. δ-Hemoglobinopathies in Thailand: screening, molecular basis, genotype-phenotype interaction, and implication for prevention and control of thalassemia. Ann Hematol. 2021;100(8):1953–63. doi: 10.1007/s00277-021-04510-2
41. Rizzuto V, Koopmann TT, Blanco-Álvarez A, Tazón-Vega B, Idrizovic A, Díaz de Heredia C, Del Orbe R, Pampliega MV, Velasco P, Beneitez D, et al. Usefulness of NGS for diagnosis of dominant beta-thalassemia and unstable hemoglobinopathies in five clinical cases. Front Physiol. 2021;12:628236. doi: 10.3389/fphys.2021.628236
42. Rahim MA, Khan MAY, Chowdhury TA, Ananna MA. Septicemic melioidosis complicating undiagnosed chronic kidney disease and beta-thalassemia minor in a Bangladeshi farmer. Saudi J Kidney Dis Transplant Off Publ Saudi Cent Organ Transplant Saudi Arab. 2020;31(6):1411–14. doi: 10.4103/1319-2442.308358
43. Kattamis A, Forni GL, Aydinok Y, Viprakasit V. Changing patterns in the epidemiology of β‐thalassemia. Eur J Haematol. 2020;105(6):692–703. doi: 10.1111/ejh.13512
44. Austin A, Tobin E, Judson MA, Hage CA, Hu K, Epelbaum O, Fantauzzi J, Jones DM, Gilroy S, Chopra A. Blastomycosis in the capital district of New York state: a newly identified emerging endemic area. Am J Med. 2021;134(2):e101–8. doi: 10.1016/j.amjmed.2020.09.017
45. Ballestas SA, Magliocca KR, Balter L, Hatcher JL. Laryngeal blastomycosis, an unexpected diagnosis: a case report. J Voice Off J Voice Found. 2022;36(6):881.e1–e3. doi: 10.1016/j.jvoice.2020.09.015
46. Bethuel NW, Siddiqui N, Edmonds L. Pulmonary blastomycosis in rural upstate New York: a case series and review of literature. Ann Thorac Med. 2020;15(3):174–8. doi: 10.4103/atm.ATM_86_20
47. Kumar A, Kunoor A, Eapen M, Singh PK, Chowdhary A. Blastomycosis misdiagnosed as tuberculosis, India. Emerg Infect Dis. 2019;25(9):1776–1777. doi: 10.3201/eid2509.190587
48. Kuzel AR, Lodhi MU, Syed IA, Zafar T, Rahim U, Hanbazazh M, Naumova N, Rahim M. Cutaneous, intranasal blastomycosis infection in two patients from Southern West Virginia: diagnostic dilemma. Cureus. 2018;10(1):e2095. doi: 10.7759/cureus.2095
49. Bradsher RW. Mycology, pathogenesis, and epidemiology of blastomycosis. 2022. Available from: https://www.uptodate.com/contents/mycology-pathogenesis-and-epidemiology-of-blastomycosis [cited 12 July 2023].
50. Fengzhen Y, Lihua J, Jinying W, Maoli Y. A rare case of thoracic brucellosis misdiagnosed as malignant tumor and literature review. Indian J Pathol Microbiol. 2021;64(4):824–6. doi: 10.4103/IJPM.IJPM_592_20
51. Güven M. Brucellosis in a patient diagnosed with coronavirus disease 2019 (COVID-19). J Infect Dev Ctries. 2021;15(8):1104–6. doi: 10.3855/jidc.13899
52. Rozis M, Vlamis J, Pneumaticos SG. Chronic undiagnosed brucellosis presenting as sciatica. Cureus. 2021;13(2):e13114. doi: 10.7759/cureus.13114
53. Yan JF, Zhou HY, Luo SF, Wang X, Yu JD. Rare case of brucellosis misdiagnosed as prostate carcinoma with lumbar vertebra metastasis: a case report. World J Clin Cases. 2021;9(21):6009–16. doi: 10.12998/wjcc.v9.i21.6009
54. Zhai J, Peng R, Wang Y, Lu Y, Yi H, Liu J, Lu J, Chen Z. Factors associated with diagnostic delays in human Brucellosis in Tongliao City, Inner Mongolia Autonomous Region, China. Front Public Health. 2021;9:648054. doi: 10.3389/fpubh.2021.648054
55. Seleem MN, Boyle SM, Sriranganathan N. Brucellosis: a re-emerging zoonosis. Vet Microbiol. 2010;140(3–4):392–8. doi: 10.1016/j.vetmic.2009.06.021
56. Pappas G, Papadimitriou P, Akritidis N, Christou L, Tsianos EV. The new global map of human brucellosis. Lancet Infect Dis. 2006;6(2):91–9. doi: 10.1016/S1473-3099(06)70382-6
57. Chauveau S, Le Vavasseur O, Chevalier P. Delayed diagnosis of Brugada syndrome in a patient with aborted sudden cardiac death and initial negative flecainide challenge. Clin Case Rep. 2017;5(12):2022–4. doi: 10.1002/ccr3.1198
58. Korlipara H, Korlipara G, Pentyala S. Brugada syndrome. Acta Cardiol. 2021;76(8):805–24. doi: 10.1080/00015385.2020.1790823
59. Smith LD, Gast S, Guy DF. Brugada syndrome: fatal consequences of a must-not-miss diagnosis. Crit Care Nurse. 2021;41(5):15–22. doi: 10.4037/ccn2021499
60. Vutthikraivit W, Rattanawong P, Putthapiban P, Sukhumthammarat W, Vathesatogkit P, Ngarmukos T, Thakkinstian A. Worldwide prevalence of Brugada syndrome: a systematic review and meta-analysis. Acta Cardiol Sin. 2018;34(3):267–77. doi: 10.6515/ACS.201805_34(3).20180302B
61. Baran I, Düzgün AP, Mumcuoğlu İ, Aksu N. Chronic lower extremity wound infection due to Kerstersia gyiorum in a patient with Buerger’s disease: a case report. BMC Infect Dis. 2017;17(1):608. doi: 10.1186/s12879-017-2711-3
62. Rivera-Chavarría IJ, Brenes-Gutiérrez JD. Thromboangiitis obliterans (Buerger’s disease). Ann Med Surg 2012. 2016;7:79–82. doi: 10.1016/j.amsu.2016.03.028
63. Bersano A, Kraemer M, Burlina A, Mancuso M, Finsterer J, Sacco S, Salvarani C, Caputi L, Chabriat H, Oberstein SL, et al. Heritable and non-heritable uncommon causes of stroke. J Neurol. 2021;268(8):2780–807. doi: 10.1007/s00415-020-09836-x
64. Kitahara S, Tsuboguchi S, Uemura M, Nozaki H, Kanazawa M, Onodera O. Patients with heterozygous HTRA1-related cerebral small vessel disease misdiagnosed with other diseases: two case reports. Clin Neurol Neurosurg. 2022;223:107502. doi: 10.1016/j.clineuro.2022.107502
65. Fukutake T. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification. J Stroke Cerebrovasc Dis Off J Natl Stroke Assoc. 2011;20(2):85–93. doi: 10.1016/j.jstrokecerebrovasdis.2010.11.008
66. Menezes Cordeiro I, Nzwalo H, Sá F, Ferreira RB, Alonso I, Afonso L, Basílio C. Shifting the CARASIL Paradigm. Stroke. 2015;46(4):1110–12. doi: 10.1161/STROKEAHA.114.006735
67. Bajaj BK, Singh A, Anand KS, Garg J. Cerebrotendinous Xanthomatosis: report of two cases and a novel genetic mutation in an Indian patient. J Neurosci Rural Pract. 2013;4(Suppl 1):S87–90. doi: 10.4103/0976-3147.116420
68. Cao LX, Yang M, Liu Y, Long WY, Zhao GH. Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: a case report and literature review. World J Clin Cases. 2020;8(21):5446–5456. doi: 10.12998/wjcc.v8.i21.5446
69. Koyama S, Sekijima Y, Ogura M, Hori M, Matsuki K, Miida T, Harada-Shiba M. Cerebrotendinous xanthomatosis: molecular pathogenesis, clinical spectrum, diagnosis, and disease-modifying treatments. J Atheroscler Thromb. 2021;28(9):905–25. doi: 10.5551/jat.RV17055
70. Lee CW, Lee JJ, Lee YF, Wang PW, Pan TL, Chang WN, Tsai MH. Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: report of a novel CYP27A1 mutation and literature review. J Clin Lipidol. 2019;13(6):954–9.e1. doi: 10.1016/j.jacl.2019.10.001
71. Sekijima Y, Koyama S, Yoshinaga T, Koinuma M, Inaba Y. Nationwide survey on cerebrotendinous xanthomatosis in Japan. J Hum Genet. 2018;63(3):271–80. doi: 10.1038/s10038-017-0389-4
72. Ahmed Ghassem M, Mounach A, H Djossou J, Toufik H, El Ouardi N, Achemlal L, Bezza A. Achilles tendon xanthoma and cholestanol revealing cerebrotendinous xanthomatosis: a new case report. Case Rep Rheumatol. 2021;2021:e6656584. doi: 10.1155/2021/6656584
73. Duell PB, Salen G, Eichler FS, DeBarber AE, Connor SL, Casady L, Jayadev S, Kisanuki Y, Lekprasert P, Malloy MJ, et al. Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis. J Clin Lipidol. 2018;12(5):1169–78. doi: 10.1016/j.jacl.2018.06.008
74. Cotella JI, Sauce AL, Saldarriaga CI, Perez GE, Farina JM, Wyss F, Sosa Liprandi A, Mendoz I, Múnera AG, Alexander B, et al. Chikungunya and the heart. Cardiology. 2021;146(3):324–34. doi: 10.1159/000514206
75. Ferede G, Tiruneh M, Abate E, Wondimeneh Y, Gadisa E, Howe R, Aseffa A, Tessema B. Evidence of chikungunya virus infection among febrile patients in northwest Ethiopia. Int J Infect Dis IJID Off Publ Int Soc Infect Dis. 2021;104:183–8. doi: 10.1016/j.ijid.2020.12.057
76. Hakami AR, Alshamrani AA, Alqahtani M, Alraey Y, Alhefzi RA, Alasmari S, Makkawi M, Dobie G, Mir M, Alshahrani M, et al. Detection of chikungunya virus in the Southern region, Saudi Arabia. Virol J. 2021;18(1):190. doi: 10.1186/s12985-021-01660-7
77. Mala W, Wilairatana P, Kotepui KU, Kotepui M. Prevalence of malaria and Chikungunya co-infection in febrile patients: a systematic review and meta-analysis. Trop Med Infect Dis. 2021;6(3):119. doi: 10.3390/tropicalmed6030119
78. Stubbs SCB, Johar E, Yudhaputri FA, Yohan B, Santoso MS, Hayati RF, Denis D, Blacklaws BA, Powers AM, Sasmono RT, et al. An investigation into the epidemiology of chikungunya virus across neglected regions of Indonesia. PLoS Negl Trop Dis. 2020;14(12):e0008934. doi: 10.1371/journal.pntd.0008934
79. Silva LA, Dermody TS. Chikungunya virus: epidemiology, replication, disease mechanisms, and prospective intervention strategies. J Clin Invest. 127(3):737–49. doi: 10.1172/JCI84417
80. WHO. Chikungunya Fact Sheet. Available from: https://www.who.int/news-room/fact-sheets/detail/chikungunya [cited 13 July 2023].
81. Liu T, Wang T, Bao Y, Du J, Guan Y. Cerebral cysticercosis mimicking subarachnoid hemorrhage: a case report. Chin Neurosurg J. 2021;7(1):39. doi: 10.1186/s41016-021-00258-w
82. Fan RY, Wang XW, Xue LJ, An R, Sheng JQ. Cronkhite-Canada syndrome polyps infiltrated with IgG4-positive plasma cells. World J Clin Cases. 2016;4(8):248–52. doi: 10.12998/wjcc.v4.i8.248
83. Slavik T, Montgomery EA. Cronkhite–Canada syndrome six decades on: the many faces of an enigmatic disease. J Clin Pathol. 2014;67(10):891–7. doi: 10.1136/jclinpath-2014-202488
84. Kopáčová M, Urban O, Cyrany J, Laco J, Bure J, Rejchrt S, Bártová J, Tachecí I. Cronkhite-Canada syndrome: review of the literature. Gastroenterol Res Pract. 2013;2013:856873. doi: 10.1155/2013/856873
85. Cantey PT, Montgomery SP, Straily A. Neglected parasitic infections: what family physicians need to know – a CDC update. Am Fam Physician. 2021;104(3):277–87.
86. Gupta D, Gupta P, Jain S, Rahar S. Cytomorphological spectrum of cysticercosis: a study of 26 cases. Cytopathol Off J Br Soc Clin Cytol. 2021;32(6):802–6. doi: 10.1111/cyt.13043
87. Lobo FD, Vatsala KB, Deepa Adiga AS, Rai S. Cysts that still persist: a case series of cysticercosis on histopathological evaluation. Turk Patoloji Derg. 2021;37(3):254–7. doi: 10.5146/tjpath.2020.01518
88. Wankhede L, Sahoo SK, Hosur B. Temporalis muscle cysticercosis: common parasite at uncommon location. Asian J Neurosurg. 2021;16(2):431–2. doi: 10.4103/ajns.AJNS_55_19
89. WHO. Taeniasis and Cysticercosis. Available from: https://www.who.int/data/gho/data/themes/topics/taeniasis-cysticercosis [cited 13 July 2023].
90. Jisamerin J, Mohamedkalifa A, Gaur A, Geetha J, Sakthivadivel V. Dengue: a neglected disease of concern. Cureus. 2021;13(10):e18500. doi: 10.7759/cureus.18500
91. Umakanth M, Suganthan N. Unusual manifestations of dengue fever: a review on expanded dengue syndrome. Cureus. 2020;12(9):e10678. doi: 10.7759/cureus.10678
92. Puthalath AS, Samanta R, Jamil M, Sood G, Kumawat D, Agrawal A. Case report: foveolitis as an indicator of underlying undiagnosed dengue fever. Am J Trop Med Hyg. 2021;104(1):110–14. doi: 10.4269/ajtmh.20-0806
93. WHO. Epidemiology, burden of disease and transmission. In: Dengue: Guidelines for Diagnosis, Treatment, Prevention and Control: New Edition. World Health Organization; 2009. Available from: https://www.ncbi.nlm.nih.gov/books/NBK143159/ [cited 13 July 2023].
94. Adams L. Dengue epidemiology: globally and in the United States. Presented at: October 19, 2022. Available from: https://www.cdc.gov/vaccines/acip/meetings/downloads/slides-2022-10-19-20/02-dengue-adams-508.pdf [cited 13 July 2023].
95. WHO. Dengue and Severe Dengue. Available from: https://www.who.int/news-room/fact-sheets/detail/dengue-and-severe-dengue [cited 13 July 2023].
96. Atici AG, Findik S, Sengul B, Yildiz L, Uzun O, Erkan L. Diffuse panbronchiolitis, a potentially misdiagnosed sinopulmonary syndrome. Ann Saudi Med. 2005;25(6):501–4. doi: 10.5144/0256-4947.2005.501-504
97. Chen Y, Kang J, Li S. Diffuse panbronchiolitis in China. Respirol Carlton Vic. 2005;10(1):70–75. doi: 10.1111/j.1440-1843.2005.00622.x
98. Murthy PK. Strategies to control human lymphatic filarial infection: tweaking host’s immune system. Curr Top Med Chem. 2019;19(14):1226–40. doi: 10.2174/1568026619666190618110613
99. Bharucha T, Sengvilaipaseuth O, Seephonelee M, Vongsouvath M, Vongsouvath M, Rattanavong S, Piorkowski G, Lecuit M, Gorman C, Pommier JD, et al. Detection of Japanese encephalitis virus RNA in human throat samples in Laos – a pilot study. Sci Rep. 2018;8(1):8018. doi: 10.1038/s41598-018-26333-4
100. Hotez PJ, Bottazzi ME, Strych U, Chang LY, Lim YAL, Goodenow MM, AbuBakar S. Neglected tropical diseases among the Association of Southeast Asian Nations (ASEAN): overview and update. PLoS Negl Trop Dis. 2015;9(4):e0003575. doi: 10.1371/journal.pntd.0003575
101. Tarantola A, Goutard F, Newton P, de Lamballerie X, Lortholary O, Cappelle J, Buchy P. Estimating the burden of Japanese encephalitis virus and other encephalitides in countries of the mekong region. PLoS Negl Trop Dis. 2014;8(1):e2533. doi: 10.1371/journal.pntd.0002533
102. Solomon T, Ooi MH, Beasley DWC, Mallewa M. West Nile encephalitis. BMJ. 2003;326(7394):865–9. doi: 10.1136/bmj.326.7394.865
103. Ahmadi N, Mbuagbaw L, Hanna WC, Finley C, Agzarian J, Wen CK, Coret M, Schieman C, Shargall Y. Development of a clinical score to distinguish malignant from benign esophageal disease in an undiagnosed patient population referred to an esophageal diagnostic assessment program. J Thorac Dis. 2020;12(3):191–8. doi: 10.21037/jtd.2020.02.07
104. Kimura H, Yoshida M, Tanaka M, Kawata N, Kakushima N, Takizawa K, Kishida Y, Imai K, Ito S, Hotta K, et al. Preoperative indicators of misdiagnosis in invasion depth staging of esophageal cancer: pitfalls of magnifying endoscopy with narrow-band imaging. Dig Endosc Off J Jpn Gastroenterol Endosc Soc. 2020;32(1):56–64. doi: 10.1111/den.13464
105. Nobel TB, Curry M, Gennarelli R, Jones DR, Molena D. Higher clinical suspicion is needed for prompt diagnosis of esophageal adenocarcinoma in young patients. J Thorac Cardiovasc Surg. 2020;159(1):317–326.e5. doi: 10.1016/j.jtcvs.2019.03.095
106. Visaggi P, Barberio B, Ghisa M, Ribolsi M, Savarino V, Fassan M, Valmasoni M, Marchi S, de Bortoli N, Savarino E. Modern diagnosis of early esophageal cancer: from blood biomarkers to advanced endoscopy and artificial intelligence. Cancers. 2021;13(13):3162. doi: 10.3390/cancers13133162
107. Zhang Y. Epidemiology of esophageal cancer. World J Gastroenterol WJG. 2013;19(34):5598–606. doi: 10.3748/wjg.v19.i34.5598
108. Chou SC, Lin CY, Lin HY, Pai CH, Yu CY, Kuo SF, Lin JS, Lin PT, Hung MH, Hsieh HN, et al. Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation. Int J Hematol. 2022;116(4):528–33. doi: 10.1007/s12185-022-03390-0
109. Kanaji T, Okamura T, Osaki K, Kuroiwa M, Shimoda K, Hamasaki N, Niho Y. A common genetic polymorphism (46 C to T substitution) in the 5′-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level. Blood. 1998;91(6):2010–14. doi: 10.1182/blood.V91.6.2010
110. Ahmad T, Imran M, Ahmad K, Khan M, Baig M, Al-Rifai RH, Al-Omari B. A bibliometric analysis and global trends in fascioliasis research: a neglected tropical disease. Anim Open Access J MDPI. 2021;11(12):3385. doi: 10.3390/ani11123385
111. Caravedo MA, Cabada MM. Human fascioliasis: current epidemiological status and strategies for diagnosis, treatment, and control. Res Rep Trop Med. 2020;11:149–58. doi: 10.2147/RRTM.S237461
112. Dermauw V, Muchai J, Al Kappany Y, Fajardo Castaneda AL, Dorny P. Human fascioliasis in Africa: a systematic review. PLoS One. 2021;16(12):e0261166. doi: 10.1371/journal.pone.0261166
113. Lee RY, White RV, Shin BJ, Collins BG. Hepatic parasitic abscess resistant to traditional anthelmintics: difficulty of diagnosis and treatment of fascioliasis in the USA. BMJ Case Rep. 2021;14(7):e242613. doi: 10.1136/bcr-2021-242613
114. Siles-Lucas M, Becerro-Recio D, Serrat J, González-Miguel J. Fascioliasis and fasciolopsiasis: current knowledge and future trends. Res Vet Sci. 2021;134:27–35. doi: 10.1016/j.rvsc.2020.10.011
115. Good R, Scherbak D. Fascioliasis. In: StatPearls. StatPearls Publishing; 2023. Available from: http://www.ncbi.nlm.nih.gov/books/NBK537032/ [cited 13 July 2023].
116. CDC. CDC – Fasciola – Epidemiology & Risk Factors. 2019. Available from: https://www.cdc.gov/parasites/fasciola/epi.html [cited 13 July 2023].
117. Mitchell E, Kelly-Hanku A, Krentel A, Romani L, Robinson LJ, Vaz Nery S, Kaldor J, Steer AC, Bell S. Community perceptions and acceptability of mass drug administration for the control of neglected tropical diseases in Asia-Pacific countries: a systematic scoping review of qualitative research. PLoS Negl Trop Dis. 2022;16(3):e0010215. doi: 10.1371/journal.pntd.0010215
118. Ngatse JA, Ndziessi G, Missamou F, Kinouani R, Hemilembolo M, Pion SD, Bork KA, Abena AA, Boussinesq M, Chesnais CB. Historical overview and geographical distribution of neglected tropical diseases amenable to preventive chemotherapy in the Republic of the Congo: a systematic review. PLoS Negl Trop Dis. 2022;16(7):e0010560. doi: 10.1371/journal.pntd.0010560
119. CDC. CDC – Lymphatic Filariasis – Epidemiology & Risk Factors. 2021. Available from: https://www.cdc.gov/parasites/lymphaticfilariasis/epi.html [cited 13 July 2023].
120. Klion A. Lymphatic filariasis: epidemiology, clinical manifestations, and diagnosis. 2023. Available from: https://www.uptodate.com/contents/lymphatic-filariasis-epidemiology-clinical-manifestations-and-diagnosis
121. Chadwick G, Groene O, Riley S, Hardwick R, Crosby T, Hoare J, Hanna GB, Greenaway K, Cromwell DA. . Gastric cancers missed during endoscopy in England. Clin Gastroenterol Hepatol Off Clin Pract J Am Gastroenterol Assoc. 2015;13(7):1264–70.e1. doi: 10.1016/j.cgh.2015.01.025
122. Ocasio Quinones GA, Khan Suheb MZ, Woolf A. Small bowel cancer. In: StatPearls. StatPearls Publishing; 2023. Available from: http://www.ncbi.nlm.nih.gov/books/NBK560725/ [cited 11 July 2023].
123. Sung IK, Kim YC, Yun JW, Seo HI, Park DI, Cho YK, Kim HJ, Park JH, Sohn CI, Jeon WK, et al. Characteristics of advanced gastric cancer undetected on gastroscopy. Korean J Gastroenterol Taehan Sohwagi Hakhoe Chi. 2011;57(5):288–93. doi: 10.4166/kjg.2011.57.5.288
124. Tata MD, Dharmendran R, Ramesh G, Kandasami P. Delay in diagnosis of upper gastrointestinal cancer: whose fault is it? Med J Malaysia. 2013;68(3):275–7.
125. Zheng W, Obeng RC, Graham RP, Lui S, Cheng J, Alexiev BA, Quigley B, Krasinskas A, Yang GY, Escobar D, et al. Histologic variants of Kaposi sarcoma in the gastrointestinal tract: a contemporary multi-institutional clinicopathologic analysis of 46 cases. Am J Surg Pathol. 2022;46(11):1500–6. doi: 10.1097/PAS.0000000000001937
126. Søreide K, Sandvik OM, Søreide JA, Giljaca V, Jureckova A, Bulusu VR. Global epidemiology of gastrointestinal stromal tumours (GIST): a systematic review of population-based cohort studies. Cancer Epidemiol. 2016;40:39–46. doi: 10.1016/j.canep.2015.10.031
127. Albayrak C, Albayrak D. Red cell glucose 6-phosphate dehydrogenase deficiency in the northern region of Turkey: is G6PD deficiency exclusively a male disease? Pediatr Hematol Oncol. 2015;32(2):85–91. doi: 10.3109/08880018.2014.940074
128. Palmer K, Dick J, French W, Floro L, Ford M. Methemoglobinemia in Patient with G6PD deficiency and SARS-CoV-2 infection. Emerg Infect Dis. 2020;26(9):2279–81. doi: 10.3201/eid2609.202353
129. Tang J, Zhou X, Liu X, Ning L, Zhou W, He Y. External quality assessment program for detection of glucose-6-phosphate dehydrogenase deficiency in the Guangxi region. Exp Ther Med. 2017;14(3):2021–4. doi: 10.3892/etm.2017.4761
130. Phillpotts S, Tash E, Sen S. Glucose-6-phosphate dehydrogenase deficiency: an unusual cause of acute jaundice after paracetamol overdose. Eur J Haematol. 2014;93(5):446–8. doi: 10.1111/ejh.12330
131. Nkhoma ET, Poole C, Vannappagari V, Hall SA, Beutler E. The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis. Blood Cells Mol Dis. 2009;42(3):267–78. doi: 10.1016/j.bcmd.2008.12.005
132. Awasthi K, Arya R, Bhattacharya A, Bhattacharya S. The inherited neuromuscular disorder GNE myopathy: research to patient care. Neurol India. 2019;67(5):1213–19. doi: 10.4103/0028-3886.271259
133. Soule T, Phan C, White C, Resch L, Lacson A, Martens K, Pfeffer G. GNE myopathy with novel mutations and pronounced paraspinal muscle atrophy. Front Neurol. 2018;9:942. doi: 10.3389/fneur.2018.00942
134. Fucharoen S, Weatherall DJ. The hemoglobin E thalassemias. Cold Spring Harb Perspect Med. 2012;2(8):a011734. doi: 10.1101/cshperspect.a011734
135. Ha J, Martinson R, Iwamoto SK, Nishi A. Hemoglobin E, malaria and natural selection. Evol Med Public Health. 2019;2019(1):232–41. doi: 10.1093/emph/eoz034
136. Harutunian GM, Beydoun SR, Rison RA. Kennedy disease misdiagnosed as polymyositis: a case report. BMC Res Notes. 2013;6:389. doi: 10.1186/1756-0500-6-389
137. Paparounas K, Gotsi A, Syrrou M, Akritidis N. Kennedy disease: avoiding misdiagnosis. Arch Neurol. 2003;60(6):893–4. doi: 10.1001/archneur.60.6.893
138. Skoretz SA, Yee MS, Martino R. Complications after cardiovascular surgery in a case of undiagnosed spinal-bulbar muscular atrophy (Kennedy disease). Am J Crit Care Off Publ Am Assoc Crit-Care Nurses. 2012;21(2):139–8. doi: 10.4037/ajcc2012453
139. Yuan M, Chen W, Zhou H, Xiao Z, Wang W, Wang W, Yin X, Xu L. Kennedy disease misdiagnosed as polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) syndrome: a case report. Med Princ Pract Int J Kuwait Univ Health Sci Cent. 2016;25(3):286–9. doi: 10.1159/000442822
140. Lai KL, Ng JY, Srinivasan S. Xerophthalmia and keratomalacia secondary to diet-induced vitamin A deficiency in Scottish adults. Can J Ophthalmol J Can Ophtalmol. 2014;49(1):109–12. doi: 10.1016/j.jcjo.2013.09.003
141. Foster A. Case study: clinical research. Community Eye Health. 2022;35(117):4. doi: 10.4324/9781003262336-6
142. Feroze KB, Kaufman EJ. Xerophthalmia. In: StatPearls. StatPearls Publishing; 2023. Available from: http://www.ncbi.nlm.nih.gov/books/NBK431094/ [cited 13 July 2023].
143. Cunha BA, Mickail N, Durie N, Pherez FM, Strollo S. Fever of unknown origin (FUO) caused by Kikuchi’s disease mimicking lymphoma. Heart Lung J Crit Care. 2009;38(5):450–6. doi: 10.1016/j.hrtlng.2009.01.002
144. Mirgh SP, Satiya J, Sorabjee JS. Bilateral painful parotid lumps and a lump in the groIn: an uncommon presentation of common Kikuchi’s disease. J Fam Med Prim Care. 2016;5(2):465–7. doi: 10.4103/2249-4863.192378
145. Murali A, Narasimhalu CRV, Madhavan M, Sujithkumar S. Kikuchi’s disease: an uncommon cause of cervical lymphadenopathy. J Indian Med Assoc. 2014;112(1):51–3.
146. Rakesh P, Alex RG, Varghese GM, Mathew P, David T, Manipadam MT, Nair S, Abraham O. Kikuchi-fujimoto disease: clinical and laboratory characteristics and outcome. J Glob Infect Dis. 2014;6(4):147–50. doi: 10.4103/0974-777X.145234
147. Schofer JM, Tong TC, Tanen DA. Kikuchi’s disease: a rare cause of cervical lymphadenitis and fever. J Emerg Med. 2005;29(2):151–3. doi: 10.1016/j.jemermed.2005.01.017
148. Bosch X, Guilabert A. Kikuchi-Fujimoto disease. Orphanet J Rare Dis. 2006;1:18. doi: 10.1186/1750-1172-1-18
149. Gong Y, Gu JY, Labh S, Shi YL. Kimura disease accompanied with Nephrotic syndrome in a 45-year-old male. Diagn Pathol. 2015;10:43. doi: 10.1186/s13000-015-0277-1
150. Ye X, Feng Y, Lin S. Pulmonary embolism as the initial clinical presentation of Kimura disease: case report and literature review. Blood Coagul Fibrinolysis Int J Haemost Thromb. 2015;26(4):414–18. doi: 10.1097/MBC.0000000000000278
151. Zhang X, Jiao Y. The clinicopathological characteristics of Kimura disease in Chinese patients. Clin Rheumatol. 2019;38(12):3661–7. doi: 10.1007/s10067-019-04752-6
152. Dhingra H, Nagpal R, Baliyan A, Alva SR. Kimura disease: case report and brief review of literature. Med Pharm Rep. 2019;92(2):195–9. doi: 10.15386/cjmed-1030
153. Andrade AWF, Souza CDF, Carmo RF. Temporal and spatial trends in human visceral leishmaniasis in an endemic area in Northeast Brazil and their association with social vulnerability. Trans R Soc Trop Med Hyg. 2022;116(5):469–78. doi: 10.1093/trstmh/trab160
154. Behniafar H, Vaziri VM, Tabaei SJS, Taghipour N. Comparison of three commonly used genetic markers for detection of leishmania major: an experimental study. Ethiop J Health Sci. 2021;31(4):725–30. doi: 10.4314/ejhs.v31i4.6
155. Ikedionwu CA, Dongarwar D, Williams C, Odeh E, Peh MPN, Hooker H, Wiseman S, Brock T, Payne-Green E, Chukwudum C, et al. Trends and risk factors for leishmaniasis among reproductive aged women in the United States. Int J MCH AIDS. 2021;10(2):166–73. doi: 10.21106/ijma.478
156. Volpedo G, Huston RH, Holcomb EA, Pacheco-Fernandez T, Gannavaram S, Bhattacharya P, Nakhasi HL, Satoskar AR. From infection to vaccination: reviewing the global burden, history of vaccine development, and recurring challenges in global leishmaniasis protection. Expert Rev Vaccines. 2021;20(11):1431–46. doi: 10.1080/14760584.2021.1969231
157. Bernardes-Filho F, Lima FR, Voltan G, de Paula NA, Frade MAC. Leprosy case series in the emergency room: a warning sign for a challenging diagnosis. Braz J Infect Dis Off Publ Braz Soc Infect Dis. 2021;25(5):101634. doi: 10.1016/j.bjid.2021.101634
158. Sinha S, Singh S, Mathachan SR, Savitha B, Sardana K, Malhotra P. Case report: successful outcome of primary infertility with multidrug therapy in a long-standing case of hypogonadism resulting from lepromatous leprosy: shattering the dogma of irreversible infertility in leprosy. Am J Trop Med Hyg. 2021;106(1):47–50. doi: 10.4269/ajtmh.21-0536
159. Swain SS, Sahoo G, Mahapatra PK, Panda SK. Disease burden and current therapeutical status of leprosy with special emphasis on phytochemicals. Curr Top Med Chem. 2022;22(19):1611–25. doi: 10.2174/1568026621666210909162435
160. Chatterjee A, Saravu K, Mukhopadhyay C, Chandran V. Neurological melioidosis presenting as rhombencephalitis, optic neuritis, and scalp abscess with meningitis: a case series from Southern India. Neurol India. 2021;69(2):480–2. doi: 10.4103/0028-3886.314590
161. Goarant C, Dellagi K, Picardeau M. Ending the neglect of treatable bacterial zoonoses responsible for non-malaria fevers. Yale J Biol Med. 2021;94(2):351–60.
162. Gopalakrishnan R. Melioidosis-commonly missed, yet not uncommon and eminently treatable. Indian J Crit Care Med Peer-Rev Off Publ Indian Soc Crit Care Med. 2021;25(3):258–9. doi: 10.5005/jp-journals-10071-23749
163. Veluthat C, Venkatnarayan K, Padaki P, Krishnaswamy UM. Case of melioidosis misdiagnosed as pulmonary tuberculosis. BMJ Case Rep. 2021;14(5):e242499. doi: 10.1136/bcr-2021-242499
164. Virk HS, Mukhopadhyay C, Wiersinga WJ. Melioidosis: a neglected cause of community-acquired pneumonia. Semin Respir Crit Care Med. 2020;41(4):496–508. doi: 10.1055/s-0040-1710570
165. Liu L, Gee J, Blaney D. Melioidosis, CDC yellow book 2024. 2014. Available from: https://wwwnc.cdc.gov/travel/yellowbook/2024/infections-diseases/melioidosis [cited 13 July 2023].
166. Pekgül F, Eroğlu-Ertuğrul NG, Bekircan-Kurt CE, Erdem-Ozdamar S, Çetinkaya A, Tan E, Konuşkan B, Karaağaoğlu E, Topçu M, Akarsu NA, et al. Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives. Mol Genet Metab Rep. 2020;25:100688. doi: 10.1016/j.ymgmr.2020.100688
167. Politi LS, Salsano E, Biffi A. Metachromatic leukodystrophy: too frequent (mis)diagnosis? JAMA Neurol. 2018;75(8):1027. doi: 10.1001/jamaneurol.2018.1515
168. Martins H, Mendonça J, Paiva D, Fernandes C, Cotter J. An overlapping case of Miller fisher syndrome and the pharyngeal-cervical-brachial variant of Guillain-Barré syndrome. Eur J Case Rep Intern Med. 2020;7(2):001387. doi: 10.12890/2020_001387
169. Zeylikman Y, Shah V, Shah U, Mirsen TR, Campellone JV. False-positive serum botulism bioassay in Miller-fisher syndrome. J Clin Neuromuscul Dis. 2015;17(1):27–9. doi: 10.1097/CND.0000000000000082
170. Yang MC, Liu A. Surge of Miller fisher variant and Guillain-Barré syndrome in two downtown Los Angeles community teaching hospitals. Clin Case Rep. 2020;8(11):2245–50. doi: 10.1002/ccr3.3132
171. Koul P, Patel A, Chaudhry F, Steinklein J, Harel A. A patient with concurrent multiple sclerosis and moyamoya disease. Mult Scler Relat Disord. 2021;54:103151. doi: 10.1016/j.msard.2021.103151
172. Ma Y, Guo Q, Yan Y, Zhang Y, Lin Z, Zhang J, Wang K, Song C. Moyamoya disease: a retrospective study of 198 cases. Med Clin (Barc). 2019;153(12):441–5. doi: 10.1016/j.medcli.2019.02.024
173. Mohammadi O, Krieger D, Butt I, Danckers M. A case of delayed diagnosis of moyamoya disease after recurrent strokes. Cureus. 2019;11(12):e6446. doi: 10.7759/cureus.6446
174. Musa J, Rahman M, Guy A, Guy A, Saliaj K, Siddik AB, Hyseni F, Elezi K, Kola I, Cobo A, et al. Silent moyamoya disease – a rare case report. Radiol Case Rep. 2021;16(6):1368–73. doi: 10.1016/j.radcr.2021.03.019
175. Sapra A, Bhandari P, Dix R, Sharma S, Ranjit E. An interesting case of moyamoya disease, a rare cause of transient ischemic attacks. Cureus. 2020;12(8):e9736. doi: 10.7759/cureus.9736
176. Doyle OM, van der Laan R, Obradovic M, McMahon P, Daniels F, Pitcher A, Loebinger MR. Identification of potentially undiagnosed patients with nontuberculous mycobacterial lung disease using machine learning applied to primary care data in the UK. Eur Respir J. 2020;56(4):2000045. doi: 10.1183/13993003.00045-2020
177. Liu Y, Ma X, Chen J, Wang H, Yu Z. Nontuberculous mycobacteria by metagenomic next-generation sequencing: three cases reports and literature review. Front Public Health. 2022;10:972280. doi: 10.3389/fpubh.2022.972280
178. Jeon D. Infection source and epidemiology of nontuberculous mycobacterial lung disease. Tuberc Respir Dis. 2019;82(2):94–101. doi: 10.4046/trd.2018.0026
179. Adjemian J, Frankland TB, Daida YG, Honda JR, Olivier KN, Zelazny A, Honda S, Prevots DR. Epidemiology of nontuberculous mycobacterial lung disease and tuberculosis, Hawaii, USA. Emerging Infectious Diseases. 2017;23(3):439–47. doi: 10.3201/eid2303.161827.
180. Huang CM, Tsai TF. Clinical characteristics, genetics, comorbidities and treatment of palmoplantar pustulosis: a retrospective analysis of 66 cases in a single center in Taiwan. J Dermatol. 2020;47(9):1046–9. doi: 10.1111/1346-8138.15470
181. Su O, Pirmit S, Ozkaya DB, Kural YB, Onsun N. Pustulotic arthro-osteitis (sonozaki syndrome). Indian J Dermatol. 2011;56(2):200–2. doi: 10.4103/0019-5154.80417
182. Batra P, Cheung W, Meehan SA, Pomeranz M. Pityriasis rotunda. Dermatol Online J. 2009;15(8):14. doi: 10.5070/D34d71x158
183. Ataş H, Gönül M, Koyuncu D, Alper M. Pityriasis rotunda: a case from Turkey. Int J Dermatol. 2016;55(6):e362–4. doi: 10.1111/ijd.13190
184. Bastida JM, Girós ML, Benito R, Janusz K, Hernández-Rivas JM, González-Porras JR. Sitosterolemia: diagnosis, metabolic and hematological abnormalities, cardiovascular disease and management. Curr Med Chem. 2019;26(37):6766–75. doi: 10.2174/0929867325666180705145900
185. Bazerbachi F, Conboy EE, Mounajjed T, Watt KD, Babovic-Vuksanovic D, Patel SB, Kamath PS. Cryptogenic cirrhosis and sitosterolemia: a treatable disease if identified but fatal if missed. Ann Hepatol. 2017;16(6):970–8. doi: 10.5604/01.3001.0010.5290
186. Okafor LO, Bowyer J, Thaung C, Murphy E, Verity DH. Orbital involvement of Sitosterolemia. Orbit Amst Neth. 2022;41(1):118–22. doi: 10.1080/01676830.2020.1820534
187. Brown IS, Bettington A, Bettington M, Rosty C. Tropical sprue: revisiting an underrecognized disease. Am J Surg Pathol. 2014;38(5):666–72. doi: 10.1097/PAS.0000000000000153
188. Atmaca S, Bayraktar C, Cengel S, Koyuncu M. Tularemia is becoming increasingly important as a differential diagnosis in suspicious neck masses: experience in Turkey. Eur Arch Otorhinolaryngol. 2009;266(10):1595–8. doi: 10.1007/s00405-008-0891-6
189. Calanan RM, Rolfs RT, Summers J, Coombs J, Amadio J, Holbrook J, Mead PS. Tularemia outbreak associated with outdoor exposure along the western side of Utah Lake, Utah, 2007. Public Health Rep Wash DC 1974. 2010;125(6):870–6. doi: 10.1177/003335491012500614
190. Donate-Pérez-Molino P, Castelló-Abietar C, Fernández-Suárez J, de Vicente JC. Tularemia: diagnosis of an unexpected oculoglandular case in a non-endemic area by universal PCR. Enfermedades Infecc Microbiol Clin Engl Ed. 2019;37(9):620–1. doi: 10.1016/j.eimc.2018.12.003
191. Maurin M. Francisella tularensis, tularemia and serological diagnosis. Front Cell Infect Microbiol. 2020;10:512090. doi: 10.3389/fcimb.2020.512090
192. Sateia HF, Melia MT, Cofrancesco J. Tularemia presenting as suspected necrotic arachnidism. Clin Case Rep. 2017;5(4):497–500. doi: 10.1002/ccr3.882
193. Gürcan Ş. Epidemiology of tularemia. Balk Med J. 2014;31(1):3–10. doi: 10.5152/balkanmedj.2014.13117
194. Esa H, Norazlah B, Hameed AA, Ding CH, Wahab AA. Typhoid fever presenting as acute psychosis in a young adult: case report and literature review of typhoid psychosis. Trop Biomed. 2021;38(2):192–5. doi: 10.47665/tb.38.2.057
195. Hancuh M, Walldorf J, Minta AA, Tevi-Benissan C, Christian KA, Nedelec Y, Heitzinger K, Mikoleit M, Tiffany A, Bentsi-Enchill AD, et al. Typhoid fever surveillance, incidence estimates, and progress toward typhoid conjugate vaccine introduction – worldwide, 2018–2022. MMWR Morb Mortal Wkly Rep. 2023;72(7):171–6. doi: 10.15585/mmwr.mm7207a2
196. Hughes M, Appiah G, Watkins LF. Typhoid & paratyphoid fever, CDC yellow book 2024. 2023. Available from: https://wwwnc.cdc.gov/travel/yellowbook/2024/infections-diseases/typhoid-and-paratyphoid-fever [cited 13 July 2023].
197. Ochiai L, Khan MI, Sahastrabuddhe S, Wierzba T. Epidemiology of typhoid fever. Int J Infect Dis. 2012;16:e29. doi: 10.1016/j.ijid.2012.05.076
198. Shoughy SS, Tabbara KF. Initial misdiagnosis of Vogt-Koyanagi-Harada disease. Saudi J Ophthalmol Off J Saudi Ophthalmol Soc. 2019;33(1):52–5. doi: 10.1016/j.sjopt.2018.11.006
199. Yang P, Zhong Y, Du L, Chi W, Chen L, Zhang R, Zhang M, Wang H, Lu H, Yang L, et al. Development and evaluation of diagnostic criteria for Vogt-Koyanagi-Harada disease. JAMA Ophthalmol. 2018;136(9):1025–31. doi: 10.1001/jamaophthalmol.2018.2664
200. Stern EM, Nataneli N. Vogt-Koyanagi-Harada syndrome. In: StatPearls. StatPearls Publishing; 2023. Available from: http://www.ncbi.nlm.nih.gov/books/NBK574571/ [cited 13 July 2023].
201. Lavezzo MM, Sakata VM, Morita C, Rodriguez EE, Abdallah SF, da Silva FTG, Hirata CE, Yamamoto JH. Vogt-Koyanagi-Harada disease: review of a rare autoimmune disease targeting antigens of melanocytes. Orphanet J Rare Dis. 2016;11:29. doi: 10.1186/s13023-016-0412-4
202. Chin HL, Lin CY, Chou OHI. X-linked dystonia parkinsonism: epidemiology, genetics, clinical features, diagnosis, and treatment. Acta Neurol Belg. 2023;123(1):45–55. doi: 10.1007/s13760-022-02144-3
203. Cram DS, Zhou D. Next generation sequencing: coping with rare genetic diseases in China. Intractable Rare Dis Res. 2016;5(3):140–4. doi: 10.5582/irdr.2016.01020
204. Saeed S, Imazio M. Fabry disease in South and Central Asia: is it truly a rare disease or underappreciated? Pak J Med Sci. 2022;38(8):2373–5. doi: 10.12669/pjms.38.8.7064
205. Bajaj A, Mathew S, Vellarikkal SK, Sivadas A, Bhoyar RC, Joshi K, Jain A, Mishra A, Verma A, Jayarajan R, et al. Genomics of rare genetic diseases – experiences from India. Hum Genomics. 2019;13(1):52. Available from: https://go.gale.com/ps/i.do?p=HRCA&sw=w&issn=14797364&v=2.1&it=r&id=GALE%7CA601580687&sid=googleScholar&linkaccess=abs [cited 13 August 2023].
206. Chan SH, Bylstra Y, Teo JX, Kuan JL, Bertin N, Gonzalez-Porta M, Hebrard M, Tirado-Magallanes R, Tan JHJ, Jeyakani J, et al. Analysis of clinically relevant variants from ancestrally diverse Asian genomes. Nat Commun. 2022;13(1):6694. doi: 10.1038/s41467-022-34116-9
207. Bener A, Mohammad RR. Global distribution of consanguinity and their impact on complex diseases: genetic disorders from an endogamous population. Egypt J Med Hum Genet. 2017;18(4):315–20. doi: 10.1016/j.ejmhg.2017.01.002
208. Iqbal S, Zakar R, Fischer F, Zakar MZ. Consanguineous marriages and their association with women’s reproductive health and fertility behavior in Pakistan: secondary data analysis from Demographic and Health Surveys, 1990–2018. BMC Womens Health. 2022;22(1):118. doi: 10.1186/s12905-022-01704-2
209. Anwar S, Taslem Mourosi J, Arafat Y, Hosen MJ. Genetic and reproductive consequences of consanguineous marriage in Bangladesh. PLoS One. 2020;15(11):e0241610. doi: 10.1371/journal.pone.0241610
210. Harknett EC, Chang WYC, Byrnes S, Johnson J, Lazor R, Cohen MM, Gray B, Geiling S, Telford H, Tattersfield AE, et al. Use of variability in national and regional data to estimate the prevalence of lymphangioleiomyomatosis. QJM Int J Med. 2011;104(11):971–9. doi: 10.1093/qjmed/hcr116
211. Alpsoy E, Akman-Karakas A, Uzun S. Geographic variations in epidemiology of two autoimmune bullous diseases: pemphigus and bullous pemphigoid. Arch Dermatol Res. 2015;307(4):291–8. doi: 10.1007/s00403-014-1531-1
212. Sears ME, Genuis SJ. Environmental determinants of chronic disease and medical approaches: recognition, avoidance, supportive therapy, and detoxification. J Environ Public Health. 2012;2012:356798. doi: 10.1155/2012/356798
213. Prüss-Ustün A, Vickers C, Haefliger P, Bertollini R. Knowns and unknowns on burden of disease due to chemicals: a systematic review. Environ Health Glob Access Sci Source. 2011;10:9. doi: 10.1186/1476-069X-10-9
214. Yoo JY, Cho HJ, Moon S, Choi J, Lee S, Ahn C, Yoo KY, Kim I, Ko KP, Lee JE, et al. Pickled vegetable and salted fish intake and the risk of gastric cancer: two prospective cohort studies and a meta-analysis. Cancers. 2020;12(4):996. doi: 10.3390/cancers12040996
215. Ren JS, Kamangar F, Forman D, Islami F. Pickled food and risk of gastric cancer – a systematic review and meta-analysis of English and Chinese literature. Cancer Epidemiol Biomark Prev Publ Am Assoc Cancer Res Cosponsored Am Soc Prev Oncol. 2012;21(6):905–915. doi: 10.1158/1055-9965.EPI-12-0202
216. WHO. Neglected Tropical Diseases. Available from: https://www.who.int/health-topics/neglected-tropical-diseases [cited 13 August 2023].
217. Zhu Q, Nguyễn T, Sheils T, Alyea G, Sid E, Xu Y, Dickens J, Mathé EA, Pariser A. Scientific evidence based rare disease research discovery with research funding data in knowledge graph. Orphanet J Rare Dis. 2021;16(1):483. doi: 10.1186/s13023-021-02120-9
218. Chediak L, Bedlington N, Gadson A, Kent A, Khalek AA, Rosen L, Rust M, Shaikh MF, Tan MY, Wiafe, SA, et al. Unlocking sociocultural and community factors for the global adoption of genomic medicine. Orphanet J Rare Dis. 2022;17(1):191. doi: 10.1186/s13023-022-02328-3
219. Angural A, Spolia A, Mahajan A, Verma V, Sharma A, Kumar P, Dhar MK, Pandita KK, Rai E, Sharma S. Review: understanding rare genetic diseases in low resource regions like Jammu and Kashmir – India. Front Genet. 2020;11:415. doi: 10.3389/fgene.2020.00415
220. Haendel M, Vasilevsky N, Unni D, Bologna C, Harris N, Rehm H, Hamosh A, Baynam G, Groza T, McMurry J, et al. How many rare diseases are there? Nat Rev Drug Discov. 2020;19(2):77–8. doi: 10.1038/d41573-019-00180-y
221. Eslahi AV, Badri M, Nahavandi KH, Houshmand E, Dalvand S, Riahi SM, Johkool MG, Asadi N, Hoseini Ahangari S, Taghipour A, et al. . Prevalence of strongyloidiasis in the general population of the world: a systematic review and meta-analysis. Pathog Glob Health. 2021;115(1):7–20. doi: 10.1080/20477724.2020.1851922
222. Wu J, Dalal K. Tuberculosis in Asia and the Pacific: the role of socioeconomic status and health system development. Int J Prev Med. 2012;3(1):8.
223. Floreani A, Okazaki K, Uchida K, Gershwin ME. IgG4-related disease: changing epidemiology and new thoughts on a multisystem disease. J Transl Autoimmun. 2021;4:100074. doi: 10.1016/j.jtauto.2020.100074
224. El-Shanti H, Majeed HA, El-Khateeb M. Familial mediterranean fever in Arabs. Lancet. 2006;367(9515):1016–24. doi: 10.1016/S0140-6736(06)68430-4
225. Migita K, Izumi Y, Jiuchi Y, Iwanaga N, Kawahara C, Agematsu K, Yachie A, Masumoto J, Fujikawa K, Yamasaki S, et al. Familial Mediterranean fever is no longer a rare disease in Japan. Arthritis Res Ther. 2016;18(1):175. doi: 10.1186/s13075-016-1071-5
226. Danda D, Manikuppam P, Tian X, Harigai M. Advances in Takayasu arteritis: an Asia Pacific perspective. Front Med (Lausanne). 2022;9:952972. doi: 10.3389/fmed.2022.952972
227. Derayeh S, Kazemi A, Rabiei R, Hosseini A, Moghaddasi H. National information system for rare diseases with an approach to data architecture: a systematic review. Intractable Rare Dis Res. 2018;7(3):156–63. doi: 10.5582/irdr.2018.01065
228. Adachi T, El-Hattab AW, Jain R, Nogales Crespo KA, Quirland Lazo CI, Scarpa M, Summar M. Enhancing equitable access to rare disease diagnosis and treatment around the world: a review of evidence, policies, and challenges. Int J Environ Res Public Health. 2023;20(6):4732. doi: 10.3390/ijerph20064732