Fabrys disease

What is Fabrys disease? 

This X-linked recessive metabolic disease, also known as angiokeratoma corporis diffusum, is due to a deficiency of the lysosomal enzyme alpha-galactosidase, with resulting cell storage of the glycolipid ceramide trihexoside in several organs, including the skin (corpora angiokeratomas), kidneys, cardiovascular and pulmonary systems, blood vessels, and central and peripheral nervous systems in the dorsal root and peripheral autonomic ganglia.

The most common clinical presentation includes bouts of severe painful burning sensation in hands and feet, angiokeratoma, hypohidrosis, heat intolerance, and lenticular and corneal opacities. 

The clinical presentation of autonomic dysfunction includes diminished sweating (which may be due to lipid accumulation in sweat glands rather than neuropathy), absent skin wrinkling after immersion in warm water, reduced cutaneous flare response, reduced tear and saliva production, disturbed intestinal motility, abnormal cardiovascular responses, and abnormal pupillary response to pilocarpine. 

Regular intravenous infusions of recombinant human alpha-galactosidase A have been used as an enzyme replacement therapy (ERT) in patients with Fabry’s disease. ERT appears to improve neuropathic pain, renal function, and glomerular pathology and may also improve the overall prognosis of the disease.

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