Treatment and supportive management

Supportive Management of Fabry Disease

Symptom management may help to reduce the burden of Fabry disease. The coordination of care involves a multidisciplinary approach which may include a geneticist, genetic counselor, nephrologist, neurologist, pediatrician, dermatologist, cardiologist, ophthalmologist, gastroenterologist, internal medicine and  metabolists. Desnick RJ, Ioannou YA, Eng CM. α-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001:3733–74.
Peters FPJ, et al. Fabry's disease: a multidisciplinary disorder. Postgrad Med J 1997;73:710–12.

Many patients with Fabry disease will require further ongoing treatment to manage their particular manifestations. These could include management of:

Treatment and Adjunctive Therapies

Fabry disease is an irreversible, relentlessly progressive disease, the burden of which accumulates over  time. Desnick RJ, Ioannou YA, Eng CM. α-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001:3733–74.  Early diagnosis facilitates appropriate monitoring and management of clinical manifestations of the disease, thus helping to prevent late  complications/organ damage. Eng CM, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genetics Med 2006; 2006;8:539–48.

Disease management strategies may include medications and lifestyle approaches to symptom relief, as well as interventions to treat serious complications due to organ damage (e.g. kidney transplantation, cardiac pacemaker insertion). There are currently two approaches to treatment in respect to addressing the underlying pathophysiology; enzyme replacement therapy (ERT) and pharmacological chaperone therapy (PCT).

Enzyme Replacement Therapy

Enzyme replacement therapy aims to provide the functional enzyme such that sufficient enzyme activity is restored to clear accumulated substrate (GL-3) from cells.

Pharmacological Chaperone Therapy

Pharmacological chaperone therapy aims to selectively bind to and stabilize mutant enzyme, facilitating proper trafficking to lysosomes and helping to restore enzyme activity.