A search for Fabry disease among male end-stage renal disease patients in Lebanon and a review of the literature.

[fabry disease]

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 .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 .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 .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 .