Underdiagnosis of Fabry disease in minority ethnic groups
Church Smith, Claudia L Roy, Ashwin Steeds, Sarah Tuzcuoglu, Natalie Wingrove, Christopher Aitchison, Katherine Radford, Claire Boyes, Laura A Stewart, Fiona Geberhiwot, Tarekegn
Church Smith, Claudia L
Roy, Ashwin
Steeds, Sarah
Tuzcuoglu, Natalie
Wingrove, Christopher
Aitchison, Katherine
Radford, Claire
Boyes, Laura A
Stewart, Fiona
Geberhiwot, Tarekegn
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.
MIDER Authors
Affiliations
University Hospitals Birmingham NHS Foundation Trust; University of Birmingham; Amicus Therapeutics UK; Birmingham Women 's and Children's NHS Foundation Trust; Society for Mucopolysaccharide Diseases
Date
2025-01-17
Type
Article
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.