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

J Inherit Metab Dis. 2001 Dec;24(7):715-24. doi: 10.1023/a:1012993305223.


Anderson-Fabry disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal alpha-galactosidase A. Clinical manifestations of Anderson-Fabry disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular 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 Anderson-Fabry disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular disease, and gastrointestinal and heart problems. It therefore appears that Anderson-Fabry disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Blood Vessels / metabolism
  • Cerebrovascular Disorders / etiology
  • Child
  • Child, Preschool
  • Fabry Disease / diagnosis*
  • Fabry Disease / genetics
  • Fabry Disease / metabolism
  • Female
  • Gastrointestinal Diseases / etiology
  • Glycosphingolipids / metabolism
  • Heart Diseases / etiology
  • Heterozygote*
  • Humans
  • Kidney Diseases / etiology
  • Male
  • Paresthesia / etiology
  • X Chromosome


  • Glycosphingolipids