title: A search for Fabry disease among male end-stage renal disease patients in Lebanon and a review of the literature.
abstract: BACKGROUND
  Fabry disease (FD) is an X-linked lysosomal storage disorder occurring from the deficiency of the enzyme alpha-galactosidase A (alpha-GalA). This deficiency causes the systemic lysosomal accumulation of glycolipids, mainly globotriosylceramide (GL-3) resulting in progressive and multisystem involvement and complications. End-stage renal disease (ESRD) is responsible for significant morbidity and mortality among patients with FD. In the absence of any report about FD from Lebanon, this study was warranted to attempt revealing the prevalence of this disease among hemodialysis (HD) patients in this country.
  
  
  METHODS
  A screening was carried out on 275 male Lebanese HD patients from five dialysis centers across Lebanon. The patients included in the study were male HD patients > 18 years of age. They all consented to participate. The alpha-GalA activity was determined from the patients' plasma in Universitatskilinikum, Hamburgeppendorf, Metabolic laboratory, Hamburg, Germany.
  
  
  RESULTS
  None of the 275 patients enrolled in the study have shown a decrease in alpha-galactosidase activity below 13 nmol/hr/ml of plasma. This indicates the absence of FD in this study population.
  
  
  CONCLUSIONS
  Though no FD was detected among HD patients in this country so far, awareness about FD and its related complications in the general population and among physicians should be maintained. Once a patient is diagnosed with FD, examining other members in the family of affected patients is warranted.
authors.affiliation: Department of Renal Medicine, Rafik Hariri University Hospital, Lebanese University, Beirut, Lebanon. salimkabalan@gmail.com
authors.forename: Salim N
authors.initials: SN
authors.lastname: Kabalan
authors.affiliation: Department of Renal Medicine, Rafik Hariri University Hospital, Lebanese University, Beirut, Lebanon.
authors.forename: Soudod
authors.initials: S
authors.lastname: Abbas
authors.affiliation: Department of Renal Medicine, Rafik Hariri University Hospital, Lebanese University, Beirut, Lebanon.
authors.forename: Louay
authors.initials: L
authors.lastname: Tawil
mesh_terms: D000328:Adult; D000368:Aged; D003430:Cross-Sectional Studies; D003906:Developing Countries; D000795:Fabry Disease / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology*; D006801:Humans; D007676:Kidney Failure, Chronic / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology*; D007861:Lebanon; D008297:Male; D008403:Mass Screening / Q000706:statistics & numerical data; D008875:Middle Aged; D006435:Renal Dialysis / Q000706:statistics & numerical data; D055815:Young Adult; D000519:alpha-Galactosidase / Q000097:blood
chemical_list: D000519:alpha-Galactosidase