Today, so-called Fabry disease is assumed to be a further possible cause for stroke in young patients. Fabry disease leads – if undiscovered and thus untreated – to the excessive deposit of neutral glykosphingolipids in the vascular endothelium of different organs. The progressive endothelial accumulation of the glykosphingolipids is the cause for associated clinical anomalies in skin, eyes, kidneys, heart, brain and the peripheral nervous system. Because Fabry disease impairs several organ systems, one has to regard morbidity and mortality towards combined effects of kidney, heart failure and stroke.
Rolfs and co-worker showed a high frequency (4 %) of Fabry syndrome in a cohort of patients with cryptogenic stroke aged between 18 and 55 years. This corresponds to about 1.2 % of all stroke patients.
To unravel the prevalence of Fabry disease in young stroke patients, to overcome the bias which may occur in the Rolfs retrospective study, and to realize the probably biggest study on stroke in the young and its causes, sifap (Stroke In young Fabry Patients) was initiated under the leadership of the University of Rostock.
sifap is divided into sifap1 and sifap2.
sifap1 examines the prevalence of underlying Fabry disease in an unselected group of about 5,000 young stroke patients. Patients can decide whether their blood should be further analyzed with respect to stroke and Fabry. Consequently, one of the biggest and best defined BioBanks (containing DNA, clinical data, MRI data) will be established. This will enable scientists to conduct further studies on the cause of stroke with information from a well defined sample pool.
In subsequent sifap2 the relapse rate of acute cerebrovascular events with clinical relevance in patients with different prophylactic therapeutic approaches will be determined. Patients with a proven Fabry disease will be included in sifap2 for a minimum follow-up of 36 months.
No influence on therapy of patients is exerted; according to the usual recommendations of the specialized associations all patients receive an optimal therapy. Finally, the renewed occurrence of acute cerebrovascular events in patients with different standard therapy will be examined. This therapy is not prescribed, but corresponds to the local routine of participating centers.