Fabry

Clinical forms of Fabry disease include the classic form which presents with significant deficiency or complete absence of α-Gal A enzyme activity, resulting in a wider organ involvement; in the later-onset forms the enzyme activity is partially reduced, but not completely absent, which may present with milder symptoms.¹

 The most common features include: 

• Burning pain in hands and feet.
• Anhidrosis, hypo/hyperhidrosis.
• Angiokeratomas.
• Cramps, constipation, diarrhea.  
• Cornea Verticillata.
• Cardiomyopathy.  
• Cerebrovascular lesions.  
• Fabry nephropathy.

Confirmation of Fabry disease in males involves assessing enzyme activity and molecular confirmation. For females, enzyme activity and Lyso-GL-3 levels are evaluated in parallel. Molecular testing is performed for confirmation if either or both initial tests are positive.

Enzyme replacement therapy with a-galactosidase A enzyme is a key component in the management of Fabry disease and has been proven to help normalize renal function, cardiac function, and cerebrovascular flow. 

In addition, chaperone therapy and substrate reduction therapy are available depending on the region. Supportive therapy is necessary to manage specific symptoms and complications.²

Fabry disease can cause serious complications such as kidney failure, strokes, heart failure, and sudden cardiac death.