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| Disease found: | Fabry Disease |
| Current as of: | October 8, 2024 |
| Disease Overview: | X-linked enzyme deficiency of alpha-galactosidase A (a-Gal-A) causing buildup of glycolipids (globotriaosylceramide); has a severe form (Type 1) and a late-onset form (Type 2) [more info] |
| Signs and Symptoms: | Type 1: childhood onset of angiokeratomas, anhidrosis, episodic paresthesias, GI pain/cramping, hypertrophic cardiomyopathy, proteinuria/renal failure, strokes/TIAs. Type 2: primarily cardiomyopathy and proteinuria/renal failure [more info] |
| Diagnosis: | Males: serum a-Gal-a activity test (available here); confirm with GLA gene sequencing (available here). Females: GLA gene sequencing (activity test not recommended). [more info] |
| Treatment: | Enzyme replacement therapy (Fabrazyme) improves symptoms and slows disease progression; chaperone therapy (migalastat) to enhance endogenous enzyme in certain variants. Payment assistance info listed here. |
| Clinical Management: | ERT treatment as soon as possible to reduce risk of irreverisble organ damage. Multidisciplinary monitoring of major organ systems [more info]. Support organization: National Fabry Disease Foundation. |
| Referral: | Patients need a multidisciplinary care team and should be referred to a large center with a Fabry Disease team; the National Fabry Disease Foundation has a list.Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Pharm company Sanofi is actively recruiting. Over 40 other studies are recruiting. |