Stroke in young Fabry patients study

Stroke is the second leading cause of mortality worldwide and the most common cause of dementia in western countries.

In Europe, over 1,200,000 people experience a stroke every year. Young people, classified by WHO as age 18 to 55, are commonly affected. Yet, in at least one fourth of all cases the causes of stroke in this age group remain unclear. Recent studies suggest Fabry disease, an inherited metabolic disorder, as a crucial trigger for stroke in young patients. The role of the disease is now being examined in the international "Stroke in Young Fabry Patients (SIFAP)" study under direction of Prof Dr Arndt Rolfs, vice-director of the Department of Neurology at the University of Rostock.

Stroke is a more frequent problem in young people than commonly realised with about 15 per cent of all stroke patients being under 55. A recent study on stroke in this age group revealed that about five per cent of males and approximately three per cent of females with cryptogenic stroke (stroke with unknown origin) suffer from Fabry disease. "It is essential for young people with stroke to be screened for Fabry disease as possible trigger", said Prof Rolfs at an international press conference on SIFAP held in Berlin. "The study will not only provide reliable data on the link between Fabry disease and stroke, but will also help to improve the quality of life of Fabry patients."

SIFAP is a joint project of more than 30 European stroke units. In the first phase of the study (SIFAP 1), 5,000 young stroke patients will be examined for risk factors, clinical symptoms and possible triggers. The collected date will - among other things - allow precise conclusions about the prevalence of Fabry disease in young patients. A consecutive study (SIFAP 2) examines the efficacy of prophylactic and therapeutic measures for stroke patients with Fabry disease.

Fabry disease is an inherited, lysosomal storage disorder. Patients produce insufficient amounts of - or completely lack - alpha-galactosidase A, an enzyme, which is essential for breaking down certain fatty substances, especially globotriaosylceramide (Gb-3). In effect, the substance accumulates in blood vessels and organs such as the brain, heart, kidneys, and eyes. Typical syndromes include pain in hands and feet, dark red skin lesions, heart attack, renal insufficiency and stroke.

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