[Fabry's disease in Spain. Study of 24 cases]

Fabry's disease is a rare metabolic disorder inherited as an X-linked trait resulting from a decreased activity of the alpha-galactosidase A lysosomal enzyme. This defect leads to an accumulation of unmetabolized neutral glycosphingolipids in all cell types. This condition displays a high rate of early mortality and affects both hemizygous males and heterozygous females. We present data from Spanish patients admitted to the Fabry Outcome Survey (FOS), a multicenter European registry for patients suffering from Fabry's disease, at the time of their inclusion.

The study presents baseline data from 24 Spanish patients upon inclusion in the registry, with an analysis of their overall clinical characteristics and relationship to gender.

The median age of onset of symptoms was 13 years, while it was 25.5 years for diagnosis. In 7 patients, the manifestations of the disease had been attributed to other processes. Predominant manifestations in males were angiokeratomas (86%), pain (71%), cardiovascular involvement (71%), kidney involvement (50%), digestive symptoms (43%) and ophthalmologic complications (43%). Among females, ophthalmologic complications were present in 50%, followed by cardiovascular involvement (40%); 30% of females had a painful clinical condition which is characteristic of the process.

We present the clinical characteristics of the largest Spanish cohort of Fabry's disease sufferers reported so far. Due to the wide spectrum of clinical manifestations, their awareness allows an early diagnosis as well as the possibility of starting the specific therapy currently available.