title: Prevalence of symptoms in female Fabry disease patients: a case-control survey.
abstract: BACKGROUND
  Fabry disease (FD) is an X-linked lysosomal storage disorder, caused by a deficiency of α-galactosidase A. Several studies demonstrated that heterozygotes have symptoms such as acroparesthesia, abdominal pain and chronic fatigue. However, as these symptoms are aspecific and relatively common in the general population, it is important to compare the prevalence of these symptoms with an appropriate control group. The aim of this study was to explore the prevalence of signs and symptoms in FD females in comparison to a control group.
  
  
  METHODS
  FD females and age-matched controls were approached to complete a questionnaire. This questionnaire was developed by the Dutch Fabry patient organisation (Fabry Support en Informatie Groep Nederland, FSIGN) with input from Fabry expert-physicians from the AMC. We compared the prevalence symptoms using Pearson's chi-square test. Bonferroni correction was used to correct for multiple comparisons.
  
  
  RESULTS
  A total of 63 heterozygotes and 52 controls completed the questionnaire. Many symptoms were also common in controls. Yet, fatigue, palpitations, pains in hands and feet, joint pain, dizziness, loss of libido and proteinuria during pregnancy were more common in Fabry females (all p < 0.001).
  
  
  CONCLUSIONS
  In addition to acroparesthesia - fatigue, palpitations, dizziness, proteinuria during pregnancy, libido loss and joint pain are more prevalent in FD females as compared to a control group. Although, these symptoms are present in a significant proportion of normal controls they deserve further attention by treating physicians to better understand their significance, treatment and relationship with FD.
authors.affiliation: Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands. m.g.bouwman@amc.uva.nl
authors.forename: Machtelt G
authors.initials: MG
authors.lastname: Bouwman
authors.forename: Saskia M
authors.initials: SM
authors.lastname: Rombach
authors.forename: Erica
authors.initials: E
authors.lastname: Schenk
authors.forename: Annelies
authors.initials: A
authors.lastname: Sweeb
authors.forename: Frits A
authors.initials: FA
authors.lastname: Wijburg
authors.forename: Carla E M
authors.initials: CE
authors.lastname: Hollak
authors.forename: Gabor E
authors.initials: GE
authors.lastname: Linthorst
mesh_terms: D000328:Adult; D018771:Arthralgia / Q000453:epidemiology; D016022:Case-Control Studies; D004244:Dizziness / Q000453:epidemiology; D000795:Fabry Disease / Q000453:epidemiology*; D005221:Fatigue / Q000453:epidemiology; D005260:Female; D006579:Heterozygote; D006801:Humans; D009426:Netherlands / Q000453:epidemiology; D011247:Pregnancy; D015995:Prevalence; D011507:Proteinuria / Q000453:epidemiology; D011795:Surveys and Questionnaires