Health Care Professionals

Fabry disease is a progressive, X-linked genetic disorder resulting from a defect in the gene for the lysosomal enzyme alpha-galactosidase A (alpha-GAL). This enzyme deficiency results in an accumulation of glycosphingolipids in the vascular endothelium and visceral tissues throughout the body. Because clinical presentation is widely variable and symptoms may mimic those of other diseases, diagnosis of Fabry disease is often overlooked or delayed. While Fabry is a rare disease — the incidence is estimated to be 1 in 40,000 males — it is found among all ethnicities.^[1] Despite being an X-linked disorder, some females may express varying degrees of clinical manifestations. Moreover, there are variants of Fabry disease that do not present with classical signs and symptoms. This suggests that the actual incidence of Fabry disease may be higher than currently estimated.

Since Fabry disease was first described in 1898, much has been learned about its diagnosis, progression, and management. This website was developed to provide a valuable resource for health care professionals to enhance their understanding and knowledge about this rare disorder.

To learn more, explore these pages for:

• An overview of Fabry disease
• Signs and symptoms often seen by different specialists
• Ways to diagnose Fabry disease
• A discussion of Fabry inheritance
• A summary of current & emerging treatments
• Additional resources for professionals

^References:

1. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001;3733-3774.

		Looking for Fabry Disease Literature? See our selected bibliography for articles to download and links to Fabry abstracts in PubMed. More >>