[Comparison of patients from a Spanish Registry of Fabry disease in two periods]

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A, that leads to multiorgan dysfunction and premature death. Data from the first 24 Spanish patients enrolled on the Fabry Outcome Survey (FOS) were published in 2004, with a significant increase in the number of patients since then. This manuscript analyzes whether the clinical profile or diagnosis of these patients between the 2 periods has changed.

In 2009 the FOS included data from 92 patients. Patients included up to 2003 and those included after that year (68) were compared by sex, regarding age at onset of symptoms and diagnosis, severity and previous misdiagnoses. Similar analysis was performed between the index cases (31) and the other patients.

Mean delay in diagnosis was 10 years for both sexes. Male had a classic phenotype, and up to 40% of the females reported symptoms. In females, the enzyme activity seemed to determine disease severity. No differences were observed in any parameter when comparing the patients included in the first period to those included afterwards, nor when comparing index cases with the rest of the patients.

Registries like FOS have a great value to deepen our understanding of rare diseases. We confirm that women are not just carriers of the disease. There is still a lack of education and awareness in order to include FD in the differential diagnosis of other processes. Complete family studies would allow early diagnosis of this disorder.