Description:
A rare, inherited metabolic disease in which a glycolipid, ceramide trihexoside, accumulates in blood vessels, as well as in numerous tissues and organs. The excessive amounts present in the kidneys and other organs impairs their function. Due to absence of æ-galactosyl hydrolase. Patients present with the skin lesions, small red spots seen on the lower abdomen, thighs and scrotum, corneal opacities, episodes of fever, primary aparasthesia of the extremities and peripheral oedema and renal failure. Prevalent in males, who present full-blown syndrome, females may present a partial form. Symptoms start in childhood or at puberty. Death usually occurs in adulthood. Family history. An X-linked syndrome with complete penetrance and variable clinical expressivity in males. Female carrier asymptomatic.

The disturbance was first described i 1898 by Fabry in Germany and Anderson in England. Anderson's patient was a male aged 39 years who had an eruption on his trunk, genitals and proximal limbs. He recorded that the patient had been afflicted since childhood and that varicose veins, rectal bleeding and albuminuria had developed. Anderson termed the condition "angiokeratoma" and suggested that there might be generalised changes in the vascular system. Fabry conducted independent studies of an affected boy. In his article Fabry used the designation "purpura haemorrhagica nodularis". A further case was recognised in Egypt by Frank Cole Madden (1873-1929) in 1912 and the condition was mentioned again by Fabry in 1915 under the title "Angiokeratoma corporis naeviforme". Fabry retained his interest in the disorder and published the autopsy findings after his patient's death in 1930.