Fabry Disease (Alpha-galactosidase)

General Information

Fabry disease (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum, and alpha-galactosidase A deficiency) is an X-linked lysosomal storage disorder. 

Prevalance of Fabry disease has been estimated to be up to 1 in 40,000. However, Fabry disease may be underdiagnosed as symptoms are usually non-specific. The disease may present from adolescence to adulthood with clinical manifestations of Fabry disease including:

• Pain/paraesthesias in the limbs
• Angiokeratomas
• Angiectasis
• Hypohidrosis
• Hypertrophic cardiomyopathy
• Renal failure
• Stroke

Differential diagnosis incudes rheumatoid arthritis, rheumatic fever, SLE, raynaud's disease and 'growing pains' in children. In adults, IBS, coeliac and MS should be included in the differential.

Fabry disease should be suspected in children if the child experiences acute, unexpected pains in the limbs, chronic pain the limbs, excercise intolerance, unexplained GI disturbances, tinnitis, mild proteinuria, angiokeratomas or hypohidrosis. In addition to the sings present in children, in adults, unexplained renal dysfunction leading to CKD, unexplained cardiomyopathy, unexplained stroke or heat intolerance may also lead to a suspicion of Fabry disease.

Requests for genetic testing will only be accepted in male patients if the enzyme activity is low.  

Diagnosis is via measurement of the activity of Alpha-galactosidase and subsequent genetic investigations. Please note in women, false negative results may be obtained if enzyme activity alone is measured.