Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes

Anderson-Fabry disease is a rare, X-chromosomal lipid storage disorder caus ed by a deficiency of lysosomal alpha -galactosidase A. Clinical manifestat ions of Anderson-Fabry disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenti cular opacity, cardiovascular disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderso n-Fabry disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the disease are present, includin g acroparaesthesia, kidney dysfunction, cerebrovascular disease, and gastro intestinal and heart problems. It therefore appears that Anderson-Fabry dis ease affects both hemizygotes and heterozyotes and therefore should be cons idered to be an X-linked dominant disease.