Underdiagnosis of Fabry disease in minority ethnic groups
Abstract
Fabry disease (FD) is a rare, pan ethnic X-linked disorder. We explored ethnic representation in our service and a national patient organisation. An audit of the University Hospitals Birmingham FD cohort revealed that 9 % of index cases are minority ethnic, compared to 18.3 % of the population of England and Wales and 51.4 % of the Birmingham population. A similar split was observed in a national patient cohort, highlighting a need to identify the reasons for under-representation.
Date
2025-01-17
Type
Article
Subject
Health inequalities, Diagnosis, Ethnicity, Genetic testing, Health inequalities
Collections
Citation
Church Smith CL, Roy A, Steeds S, Tuzcuoglu N, Wingrove C, Aitchison K, Radford C, Boyes LA, Stewart F, Geberhiwot T, Steeds RP. Underdiagnosis of Fabry disease in minority ethnic groups. Mol Genet Metab Rep. 2025 Jan 17;42:101194. doi: 10.1016/j.ymgmr.2025.101194.
Journal / Source Title
Molecular Genetics and Metabolism Reports
DOI
10.1016/j.ymgmr.2025.101194
PMID
39897472
Publisher
Elsevier
Publisher’s URL
https://www.sciencedirect.com/journal/molecular-genetics-and-metabolism-reports