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.
Fabry disease in South and Central Asia: Is it truly a rare disease or underappreciated?
Imazio M.
2022-01-01
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
