Fabry disease in South and Central Asia: Is it truly a rare disease or underappreciated?

Abstract

Fabry disease (FD) is a relatively rare X-linked hereditary disease caused by mutations in the GLA gene that results in deficient α-galactosidase A (α-Gal A) enzyme activity. The disturbed catabolism of the neutral sphingolipids globotriaosylceramide (Gb3) leads to its progressive lysosomal accumulation throughout the body. Multiple organs can be affected. The atypical late-onset cardiac variant is associated with a high burden of cardiac morbidity and mortality. The true burden of FD in Central and some South Asian countries is unknown. Lack of research studies and awareness, and misdiagnosis/underdiagnosis may be the reasons. Some possible explanations as well suggestions for a structured Fabry care and research possibilities in these WHO regions are offered. doi: https://doi.org/10.12669/pjms.38.8.7064 How to cite this: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):---------. doi: https://doi.org/10.12669/pjms.38.8.7064 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.