title: Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease.
abstract: OBJECTIVE
  Fabry disease is an X-linked lysosomal disorder due to mutations in the GLA gene. Manifestations of the disease are documented in hemizygous males. Recent studies have indicated that women with GLA mutations may report symptoms. The impact on their health-related quality of life is unclear. This study compares the quality of life of obligate heterozygotes to a historical healthy control population and to populations with multiple sclerosis and rheumatoid arthritis.
  
  
  METHODS
  The RAND-36 and Fabry-disease specific questions were administered to study participants. Study subjects were obligate heterozygotes for mutations in GLA. Mean scores in each of the subscales from the RAND-36 were compared between study subjects and previously published data from the Women's Health Initiative and studies on multiple sclerosis and rheumatoid arthritis.
  
  
  RESULTS
  Comparisons between 202 study participants and the Women's Health Initiative indicated that all eight subscale scores of the RAND-36 were significantly lower for women with Fabry disease (P < 0.0001). The mean scores of the study participants more closely resembled the mean scores of the participants in the multiple sclerosis and rheumatoid arthritis studies.
  
  
  CONCLUSIONS
  Study participants reported clinically important effects on health-related quality of life. It is critical to develop management protocols for this population.
authors.affiliation: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, OH 45229-3039, USA.
authors.forename: Natalie Jansen
authors.initials: NJ
authors.lastname: Street
authors.forename: Michael S
authors.initials: MS
authors.lastname: Yi
authors.forename: Laurie A
authors.initials: LA
authors.lastname: Bailey
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Hopkin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002908:Chronic Disease; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D011153:Population / Q000235:genetics; D011788:Quality of Life; D018434:Sickness Impact Profile; D011795:Surveys and Questionnaires; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase