title: alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease.
abstract: BACKGROUND
  Fabry disease or alpha-galactosidase A (alpha-Gal A) deficiency is an X-linked lysosomal storage disorder that often leads to renal insufficiency in males and occasionally in females. The disease is rare, but its prevalence may be underestimated due to its variable clinical picture. Enzyme supplementation therapy with rHu-alphaGal A is currently available. Limited experience has so far shown that therapy may at best stabilize renal function. Despite these preliminary findings, much effort is being put into screening high-risk groups for undiagnosed alpha-Gal A deficiency. We studied the prevalence of alpha-Gal A deficiency in a Dutch dialysis cohort to establish possible underdiagnosis. We discuss the benefits of screening for Fabry disease.
  
  
  METHODS
  Activity of alpha-Gal A in whole blood was measured in a group of 508 male Dutch dialysis patients.
  
  
  RESULTS
  Of the 508 patients studied only one patient, already known with Fabry disease, had a alpha-Gal A deficiency, a prevalence of 0.22% (95 CI 0-1.1%).
  
  
  CONCLUSIONS
  No undiagnosed Fabry patients were found, indicating that in our studied cohort there is no large-scale underestimation of its prevalence. Even though screening of dialysis patients for Fabry disease might identify patients who remain otherwise unrecognized, screening of high-risk populations for alpha-Gal A deficiency should be carried out with caution since long-term efficacy of treatment is currently unknown.
authors.affiliation: Department of Internal Medicine, Clinical Haematology, Academic Medical Center, Amsterdam, The Netherlands. g.e.linthorst@amc.uva.nl
authors.forename: Gabor E
authors.initials: GE
authors.lastname: Linthorst
authors.forename: Carla E M
authors.initials: CE
authors.lastname: Hollak
authors.forename: Johanna C
authors.initials: JC
authors.lastname: Korevaar
authors.forename: Jeanette G
authors.initials: JG
authors.lastname: Van Manen
authors.forename: Johannes M F G
authors.initials: JM
authors.lastname: Aerts
authors.forename: Els W
authors.initials: EW
authors.lastname: Boeschoten
mesh_terms: D015331:Cohort Studies; D015897:Comorbidity; D018450:Disease Progression; D000795:Fabry Disease / Q000453:epidemiology*; D006801:Humans; D007674:Kidney Diseases / Q000201:enzymology / Q000453:epidemiology*; D008297:Male; D009426:Netherlands / Q000453:epidemiology; D015995:Prevalence; D011446:Prospective Studies; D006435:Renal Dialysis