ABSTRACT
Fabry’s syndrome A rare disorder which usually develops during childhood and adolescence. It often begins with unexplained periodic bouts of fever and severe sharp pains in the limbs which are aggravated by changes in environmental temperature. Small red spots develop on the skin and similar abnormalities of small blood vessels in the eyes may affect vision. Blood vessel abnormalities in the brain may cause brain damage and epilepsy. The kidneys are generally affected. It is progressive and survival beyond 50 years of age is unusual. The cause is an enzyme deficiency leading to accumulation of abnormal substances (glycosphingo lipids) in the body particularly around blood vessels. It is a lipidosis. It is inherited through the sex chromosomes and the full syndrome only appears in the male. If the mother is the carrier she may have a mild form of the condition (sex-linked inheritance). The condition can be detected in carriers.
