Background information

Stroke is the third leading cause of death in Europe and a leading cause of acquired disability in adults. Each year, about 1,250,000 people experience stroke in Europe. Stroke is the second leading cause of dementia in western countries and the second leading cause of mortality worldwide.

Fabry disease is assumed to be a further possible cause for stroke in young patients. Fabry disease leads to the excessive deposit of neutral glykosphingolipids in the vascular endothelium of different organs. The progressive endothelial accumulation of the glycosphingolipids 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.

Recent publications (Lancet 2005; 366: 1794-96) from our group show that Fabry disease must be considered as possible cause for all cases of unexplained stroke in young patients, especially in cases with the combination of infarction in the vertebrobasilar artery system and proteinuria. We demonstrated 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.