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Fabry Disease

(Fabry's Disease; Angiokeratoma Corporis Diffusum)

By

Matt Demczko

, MD, Sidney Kimmel Medical College of Thomas Jefferson University

Last full review/revision Apr 2020| Content last modified Apr 2020
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Fabry disease is a sphingolipidosis Sphingolipidoses Lysosomal enzymes break down macromolecules, either those from the cell itself (eg, when cellular structural components are being recycled) or those acquired outside the cell. Inherited defects... read more , an inherited disorder of metabolism, caused by deficiency of alpha-galactosidase A, which causes angiokeratomas, acroparesthesias, corneal opacities, recurrent febrile episodes, and renal or heart failure.

Fabry disease is an X-linked X-Linked Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. If expression of a trait requires only one copy of a gene (one allele)... read more deficiency of the lysosomal enzyme alpha-galactosidase A, which is needed for normal trihexosylceramide catabolism. Glycolipid (globotriaosylceramide) accumulates in many tissues (eg, vascular endothelium, lymph vessels, heart, kidney).

Diagnosis in males is clinical, based on appearance of typical skin lesions (angiokeratomas) over the lower trunk and by characteristic features of peripheral neuropathy (causing recurrent burning pain in the extremities), corneal opacities, and recurrent febrile episodes. Death results from renal failure or cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females are usually asymptomatic but may have an attenuated form of disease often characterized by corneal opacities.

Diagnosis of Fabry disease is by DNA analysis and/or assay of galactosidase activity—prenatally in amniocytes or chorionic villi and postnatally in serum or white blood cells. (Also see testing for suspected inherited disorders of metabolism Initial testing Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. Timely diagnosis leads to early treatment and... read more .)

Treatment of Fabry disease is enzyme replacement with recombinant alpha-galactosidase A (agalsidase beta) combined with supportive measures for fever and pain. Kidney transplantation is effective for treating renal failure.

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