Fabry disease in Spain. Description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS)

Miguel Angel Barba Romero (1) , Alberto Rivera Gallego (2) , Guillem Pintos Morell (3)

1 Internal Medicine Department
2 Internal Medicine
3 Pediatrics

Aims: Fabry disease (FD) is an X chromosome-linked transmitted lysosomal storage disorder due to the deficient activity of enzyme -galactosidase A. This leads to accumulation of neutral glycosphingolipids associated with organ involvement and premature death. We report the clinical characteristics of Spanish patients enrolled on the Fabry Outcome Survey (FOS; an international multicentre registry for the disease) and also compare these data with those from the rest of Europe. Methods: Baseline clinical data of 92 patients (41 males and 51 females) are described and analyzed globally and according to sex. We compare the data of Spanish patients with those previously published from the rest of Europe patients in FOS. Results: Mean age of onset of symptoms in males was 20, and 24 years in females, with a mean delay to the diagnosis in both sexes of 11 years. The predominant clinical involvement in males was renal (69%), cardiac (66%) and neurological (60%). For females, was neurological (42%), cardiac (33%), queratopathy (30%) and nephropathy (28%). Disease severity was significantly higher in males. On comparing with the rest of European FOS-patients, Spanish patients were diagnosed at an earlier age with a smaller proportion of disease-related involvement for most organ irrespective of sex, though not is global severity in males. Conclusions: We present the largest cohort of Spanish patients diagnosed with FD. The pattern of involvement (though not its global severity) could be different in Spanish patients in comparison with others from Europe. Expanding the knowledge of FD will permit early diagnosis as well as the possibility of starting the specific treatment.

Mots clés: Medicine

Miguel Angel Barba Romero, Alberto Rivera Gallego, Guillem Pintos Morell. Fabry disease in Spain. Description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS). International Journal of Clinical Practice, 2011, 65 (8), pp.903. ⟨10.1111/j.1742-1241.2011.02695.x⟩. ⟨hal-00652662⟩