Fabry disease

Br J Cardiol 2012;19:41–5doi:10.5837/bjc.2012.009 Leave a comment
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Anderson-Fabry disease is a rare X-linked recessive lysosomal storage disease that may cause a wide range of symptoms affecting multiple systems. It is due to a DNA mutation in the enzyme alpha-galactosidase A; this causes an accumulation of a glycolipid, globotriaosylceramide, within blood vessels, tissues, and organs, impairing their function.

Typically, males experience severe symptoms, but the impact on women is variable, with some being asymptomatic and others having severe symptoms. Although the diagnosis can often be readily made in males by measuring the blood level of alpha-galactosidase activity, in females, gene sequencing is preferred as enzyme activity may be within the normal range. However, the disease may not be suspected as many symptoms are shared with other disease processes. Important clues are multi-system symptoms that vary in age of onset, severity and manner of progression; early onset of kidney failure; and stroke or heart disease in the absence of conventional vascular risk factors. Enzyme replacement therapy is available. 

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