Fabry Disease

Chapter: Fabry Disease
McMaster Section Editor(s): Christine M. Ribic, Karen C.Y. To
Section Editor(s) in Interna Szczeklika: Franciszek Kokot, Robert Drabczyk
McMaster Author(s): Matthew Miller
Author(s) in Interna Szczeklika: Marian Klinger, Robert Drabczyk
Additional Information

DefinitionTop

Fabry disease is a hereditary X-linked disease caused by alpha-galactosidase A deficiency, which leads to tissue accumulation of glycosphingolipids and multiple organ dysfunction.

Clinical FeaturesTop

Renal disease manifests as proteinuria and eventually worsening renal function. Nephrotic range proteinuria and nephrotic syndrome occur in <20% of patients but when present, they lead to increased risk of developing end-stage renal disease (see Chronic Kidney Disease). Common presenting findings include angiokeratomas and severe neuropathic pain. Cardiac involvement occurs in up to 80% of patients and can manifest as myocardial infarction, left ventricular hypertrophy, and conduction problems. Other frequent abnormalities include hypohidrosis, nonspecific abdominal complaints, ocular abnormalities, and hearing impairment.

DiagnosisTop

Diagnosis is based on reduced or absent alpha-galactosidase A activity. Renal biopsy findings include pronounced vacuoles in the glomerular epithelial cells containing glycosphingolipids.

TreatmentTop

Treatment is enzyme replacement with recombinant alpha-galactosidase A infusions.

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