Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry

Mol Genet Metab. 2008 Feb;93(2):112-28. doi: 10.1016/j.ymgme.2007.09.013. Epub 2007 Nov 26.


Fabry disease (FD) is an X-linked lysosomal storage disease caused by alpha-galactosidase A deficiency. The Fabry Registry is a global clinical effort to collect longitudinal data on FD. In the past, most "carrier" females were usually thought to be clinically unaffected. A systematic effort has been made to enroll all FD females, regardless of symptomology. Of the 1077 enrolled females in the Registry, 69.4% had symptoms and signs of FD. The median age at symptom onset among females was 13 years, and even though 84.1% had a positive family history, the diagnosis was not made until a median age of 31 years. Twenty percent experienced major cerebrovascular, cardiac, or renal events, at a median age of 46 years. Among adult females with estimated glomerular filtration rate (eGFR) data (N=638), 62.5% had an eGFR <90 ml/min/1.73 m2 and 19.0% had eGFR <60 ml/min/1.73 m2. Proteinuria 300 mg/day was present in 39.0% of females, and 22.2% had >1 gram/day. Quality of life (QoL), as measured by the SF-36((R)) survey, was impaired at a later age than in males, but both genders experience significantly impaired QoL from the third decade of life onward. Thus, females with FD have a significant risk for major organ involvement and decreased QoL. Females should be regularly monitored for signs and symptoms of FD, and considered for enzyme replacement therapy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Cardiovascular Diseases / genetics
  • Cerebrovascular Disorders / genetics
  • Fabry Disease / diagnosis*
  • Fabry Disease / genetics
  • Fabry Disease / pathology
  • Fabry Disease / physiopathology
  • Female
  • Glomerular Filtration Rate
  • Heterozygote
  • Humans
  • Kidney Diseases / genetics
  • Longitudinal Studies
  • Male
  • Middle Aged
  • Organ Specificity
  • Phenotype
  • Quality of Life
  • Registries
  • Sex Characteristics
  • United States
  • alpha-Galactosidase / genetics
  • alpha-Galactosidase / therapeutic use


  • alpha-Galactosidase