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Fabry disease
How is it treated
Until relatively recently the only treatments available for Fabry
disease were symptomatic. Nerve pain is treated using anti-epileptic
drugs such as gabapentin and carbamezapine; angiokeratomas may be
removed or treated with laser therapy. Standard therapies such as
aspirin, antihypertensives and anti-cholesterol agents are used to
treat the renal, cardiovascular and cerebrovascular manifestations of
the disease. More recently, the introduction of enzyme replacement
therapy has offered the opportunity to treat the underlying cause of
Fabry disease. Intravenous infusion of recombinant α-Gal A enzyme has
been shown to clear deposists of GB3, stabilise renal function, reduce
heart size and significantly improve pain scores and quality of life.
Enzyme is administered intravenously every 2 weeks. In the UK most
patients receive enzyme replacement at home.
How is it diagnosed?
| Inheritance patterns and prenatal diagnosis 
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