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 late-onset form the enzyme activity is partially reduced, but not completely absent, 
which may present with milder symptoms.

 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.

Laboratory diagnosis of Fabry disease differs between males and females. 

Deficient results on a-Gal A enzyme assay is considered diagnostic in males. Enzyme assay is unreliable in females with Fabry disease who may have false-negative results however increased sensitivity may be seen by measuring enzyme activity and lyso-GL3 in parallel. 

Presence of a pathogenic variant in GLA confirms the diagnosis.

Enzyme replacement therapy with a recombinant alfa-galactosidase A is a key component in the management of Fabry disease. If ERT is started early, it may lead to better clinical outcomes by stabilization of renal function, cardiac function, and cerebrovascular flow. Chaperone therapy is available for patients with mutations considered amenable only.

Supportive therapy is necessary to manage specific symptoms and complications.

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