Rolfs and co-workers have shown a high frequency of Fabry disease in a cohort of patients with cryptogenic stroke (4 % [28/721]) aged between 18 and 55 years, i.e. stroke of unknown origin. This corresponds to about 1.2 % in the general population of young stroke patients. A broader approach has been chosen in the sifap1-study, where the prevalence of Fabry disease was examined in an unselected cohort of 5.000 young stroke patients at 48 European centres. The recruitment into sifap1 has been finished recently; first results will come up in the next months. However, it becomes evident that especially in females the cerebrovascular event might become clinically apparent later than age of 55 (K. Sims, Stroke, 2009): within each age category, Fabry patients exhibited a markedly higher incidence of stroke than the general population. Katherine Simes (2009) and co-workers report that among Fabry males 45 years, stroke incidence increased clearly with each passing decade. The mean age at first stroke among Fabry patients (39.8 years for males and 45.7 years for females) was also considerably younger than the mean age at first stroke among the general population: 76 years in males and 81 years in females, for strokes occurring between 1990 and 2004. The majority (70.9% of males and 76.9% of females) either had a stroke before a renal or cardiac event or experienced a stroke only (ie, did not have any other clinical events).

Females were more likely than males to experience a stroke as their only clinical event (26 of 52, 50.0%), compared to males (19 of 86, 22.1%). Furthermore, 18 of 47 females (38.3%) and 43 of 86 males (50.0%) experienced their first stroke before they were diagnosed with Fabry disease. Thus, most patients had either not experienced other major complications or were not known to have Fabry disease before their stroke.

The sifap network has up to now focussed on patients being 18 to 55 years of age. Increasing the age range up to 60 years should increase the likelihood for detecting Fabry patients for additional 15-20% since 30/138 patients from the Sims cohort had their stroke in the age between 55 and 60 years.