Baumgartner

Fakultäten » Medizinische Fakultät » Neurologie, Klinik für » Prof. Dr. Ralf Werner Baumgartner » Baumgartner

Completed research project

Title / Titel	Prevalence of Fabry Disease in Ischemic Stroke of Unknown Etiology
PDF	Abstract (PDF, 14 KB)
Summary / Zusammenfassung	Fabry disease is a rare X-linked, recessive disease of the vascular endothelium with manifestations in multiple organ systems, leading to ischemia and infarction including stroke in young and middle-aged adults. The untreated disease leads to death due to renal, cardiac or cerebrovascular complications in the fourth or fifth decade. It is not cost effective to screen the whole population for Fabry disease. However, illnesses with a high prevalence of Fabry disease may allow the detection of a significant amount of patients with this disorder. Fabry disease has been reported to be the cause of ischemic stroke of unknown etiology according to the criteria of TOAST in 24 (3.5%) of 688 patients who were 18 to 55 years of age. The patients were selected from 27 different clinical Departments in Germany. Fabry disease was diagnosed by detecting increased alpha-galactosidase (α-GAL) activity in men, and mutations of the α-GAL gene in women. The 26 patients with laboratory diagnosis of Fabry disease had typical clinical symptoms and signs (acroparesthesia, 39%; pain episodes and angiokeratoma, 25% each; hypohydrosis, 61%) in 25-61%, but the authors did not report the amount of patients with Fabry disease who had at least one of these clinical features. In contrast, using the aforementioned clinical symptoms and signs as screening method, Fabry disease was found in one (0.5%) of 201 young adult stroke patients evaluated in the Stroke Units of the University hospitals of Bern and Zurich, Switzerland. The different prevalence of Fabry disease might be due to difference in patient selection, clinical examination of stroke patients, or both. We will undertake this prospective study to investigate the prevalence of Fabry disease in 100 consecutive patients of the Department of Neurology of the University Hospital of Zürich with ischemic stroke of unknown etiology and an age of 18-55 years. The screening will be done by determination of α-GAL activity.
Keywords / Suchbegriffe	Fabry disease, stroke of unknown etiology
Project leadership and contacts / Projektleitung und Kontakte	Prof. Dr. med. Ralf Werner Baumgartner, MD (Project Leader) ralf.baumgartner@usz.ch PD Dr. med. Dimitrios Georgiadis, MD, PhD dimitrios.georgiadis@usz.ch Dr. med Nicolaus Michael, MD nicolaus.michael@usz.ch
Funding source(s) / Unterstützt durch	Private Sector (e.g. Industry)
Duration of Project / Projektdauer	Oct 2006 to Sep 2007