Fabry's disease

Fabry's disease Microchapters
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Diagnosis
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Case #1
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]

Synonyms and keywords: Anderson-Fabry disease; angiokeratoma corporis diffusum universale; alpha-galactosidase A deficiency; ceramide trihexosidase deficiency; hereditary dystopic lipidosis; GLA deficiency; Sweeley-Klionsky disease

Diagnosis

Physical Examination

ECG abnormalities

• AV node conduction block
• PR interval shortening
• Arrhythmias

Ultrasound

• Hemangiomas

Treatment

• Until recently, treatment of Fabry's disease targeted the symptomatic effects. However, it is currently being treated at the cellular level through enzyme replacement therapy using Agalsidase alpha (Replagal) and Agalsidase beta (Fabrazyme®).
• The cost of these drugs is problematic (approximately $170,000 US a year/patient) and remains a barrier to many patients in some countries. Enzyme replacement therapy (typically infused every two weeks) may be performed in the patient's home by the patients themselves. Enzyme replacement therapy is not a cure, and must be infused recurrently for maximum benefit.

External links

• Fabry Support & Information Group
• Template:NINDS
• Fabry's disease at NLM Genetics Home Reference
• Fabry's Disease Association

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