SP038
PREFINE PROJECT: STRATEGIC PLAN TO IMPROVE KNOWLEDGE & RECOGNITION OF FABRY DISEASE AMONG SPANISH NEPHROLOGISTS

INTRODUCTION AND AIMS: Renal disease is a major cause of morbidity in Fabry disease (FD). The definitive diagnosis is often confirmed when irreversible organ damage is already present. Early recognition of FD would allow the prevention of severe complications & the premature death of FD patients. The aim of PrEFiNe project is to improve knowledge & recognition of FD among Spanish nephrologists.

METHODS: A test has assessed to know previous knowledge;a national educational program & university course for nephrologist has designed. To determine the prevalence of FD in renal disease population, three studies are being conducted: dialysis (peritoneal and hemodialysis), kidney transplant (KTx) & a pilot study in chronic kidney disease (CKD). In addition a pedigree study in index FD patients is ongoing. Male subjects were screened by measuring α-galactosidase A and GLA sequencing. GLA sequencing is needed to screen FD in women. Finally, a pharmacoeconomic study in large FD families will be carried out.

RESULTS: Current knowledge has been evaluated by a FD test: 3% of nephrologist answered 100% correctly. In the dialysis study, 202 centers have been included (expected sample size: 10,000) in 4,634 subjects (65.7% males; 67.7 [16-97] years old) have been registered with enzymatic and/or genetic test results for 3,548 patients (1,212 females; 2,336 males). GLA sequencing was performed in all female and 51% males. Forty subjects with variants related to GLA gen have been identified: 27 p.D313Y, 6 p.R118C, 2 p.S126G, 1 p.D83N, p.A143T, 1 p.R220Q, and 1 p.S238N. KTx study, with six centers included, and CKD study are ongoing. It has been estimated that 3,000 subjects will be included in each of these studies.

CONCLUSIONS: This project allows customize activities to improve FD knowledge among nephrologist & perform largest studies to assess real prevalence of FD in renal disease population.