Anderson-Fabry disease.

Anderson-Fabry disease (AFD) syn. angiokeratoma corporis diffusum is an uncommon sex-linked disorder of sphingolipid metabolism associated with a deficiency of ceramide trihexosidase and widespread accumulation predominantly of ceramide trihexoside. In males, AFD usually presents in childhood or early adolescence with intermittent and often excruciating pain in fingers and toes. Oedema, initially transient, hypohidrosis and obscure fever are also common. Renal damage is usually detectable in the early twenties and is ultimately the most frequent cause of death, usually in the late thirties or early forties. Cerebrovascular and cardiae disturbances are also common often with a normal blood pressure. In both sexes a characteristic symptomless corneal dystrophy is usually present by early adult life. The average expectation of life in males is 42 years. In females the disorder may remain symptomless and their expectation of life is seldom impaired. This paper reports the clinical features in fifty-seven patients with AFD including twelve females. Recent advances in the elucidation of the biochemical abnormality are discussed including leucocyte alphagalactosidase activity in eighteen patients. Histological studies including histochemical and electron microscopy findings are also reported including the first account of AFD in the uterus, enabling an estimate to be made of rate of deposition of abnormal glycolipid in the endomctrium. [ABSTRACT FROM AUTHOR]