Fabry’s disease is a very rare hereditary disorder, that leads to fat metabolism product, called glycolipid accumulation. Because the abnormal gene is carried on the X-chromosome, the full-blown disorder happens only in men, who have just 1 X chromosome.

The glycolipid accumulation results in noncancerous skin growth, called angiokeratomas, to form over the trunk’s lower part. The corneas become cloudy, causing poor vision. A burning pain can progress in the legs and arms, and an individual with Fabry’s Disease, can have fever episodes, heart disease, or kidney failure, any of which can be caused by high blood pressure.

Fabrys Disease may be identified in the fetus by amniocentesis or villus sampling. The treatment of this disorder includes taking analgesics for reducing fever and pain. Fabry’s disease cannot be cured, but scientists are investigating treatment methods, where deficient enzymes are replaced by transfusions.

This entry was filed under Diseases and Conditions.

Tags: rare hereditary disorder