UK ethnic minorities are less than 10% of Fabry disease diagnoses
Researchers proffer underrepresentation may be due to different mutations
Fabry disease is underdiagnosed across different minority ethnic groups in the U.K., a study suggests.
Despite making up about one-fifth of the population of England and Wales, less than 10% of those who received a Fabry diagnosis were ethnic minorities, compared with 90% of the white population.
“Further research should be performed to identify why this may be the case and to ensure that any barriers to the diagnosis of [Fabry] in minority ethnic groups can be identified and overcome,” the researchers wrote. The study, “Underdiagnosis of Fabry disease in minority ethnic groups,” was published in Molecular Genetics and Metabolism Reports.
Fabry disease is a rare inherited condition wherein a fatty substance called globotriaosylceramide (Gb3) builds up in cells and affects organ function, especially in the kidneys and heart. Common early symptoms include burning pain in the hands and feet, skin lesions, gastrointestinal problems, and, in more severe cases, kidney failure, heart disease, and stroke.
The disease affects both men and women across different ethnicities. Its estimated prevalence is about 1 in 1,000 to 9,000 people worldwide. This is likely an underestimate of its actual prevalence, however, due to inherited mutations associated with milder and later-onset forms of Fabry.
Minority ethnic groups do face challenges in accessing healthcare, likely the result of a variety of factors, including cultural differences, language barriers, historic abuse in healthcare and research, and fear of discrimination. Such inequalities can lead to poorer health outcomes.
A lack of diversity in Fabry prevalence
Fabry occurs across all demographic and ethnic groups, but the frequency of ethnicities with Fabry in the U.K. hasn’t been assessed, leading scientists at the University of Birmingham to analyze the self-reported ethnicities of patients using two different sources: the University Hospitals Birmingham (UHB) and the Society for Mucopolysaccharide Diseases (MPS Society).
Because UHB data contained 17 ethnicities and MPS data contained 20, the team grouped them into five categories: white, South Asian, Black, mixed, and other ethnic backgrounds.
Among the 123 cases in the UHB group, 111 (90%) patients described their ethnicity as white, five (4%) as South Asian, one (1%) as Black, two (2%) as mixed, and three (2%) as belonging to another ethnicity. One patient didn’t disclose an ethnicity. Overall, 9% of UHB patients were classified as minority ethnic.
Likewise, of the 416 (81.5%) MPS Society members who provided their ethnicity, 387 (93%) identified as white, 17 (4.1%) as South Asian, three (0.7%) as Black, four (1%) as mixed, and five (1.2%) as other. Here, 7% were classified as minority ethnic.
However, 18.3% of the population in England and Wales are minority ethnic, and that figure rises to 23% in the West Midlands, where most of the UHB group lives. Birmingham is a diverse city where citizens from minority ethnic backgrounds make up more than half (51.4%) the population.
“The results demonstrate a lack of diversity within both cohorts, which suggests [Fabry] is potentially underdiagnosed in minority ethnic groups,” wrote the researchers, who offered the explanation that common and well-characterized disease-causing mutations seen in white populations may not be found in minority ethnic populations. Moreover, the limited data regarding the manifestations of Fabry in minority ethnic populations may complicate interpreting any genetic test results. Also, certain ethnic communities may be more reluctant to join patient organizations and registries.
“Underdiagnosis poses a risk to patients, therefore overcoming barriers to diagnosis in minority ethnic groups is necessary to promote more favorable health outcomes,” the researchers wrote. “Increasing awareness of [Fabry] among healthcare professionals may increase diagnostic rates.”
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