Stroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in Young Stroke Patients

Stroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in an Unselected Group of Young Stroke Patients: an International, Multicentre Prevalence Study

More than one million people in Europe suffer from a stroke every day. Normally older people have a stroke, but also a significant number of younger people between 18 and 55 years. Usually, these cannot be explained by the classical risk factors such as diabetes, overweight and high blood pressure. New studies indicate that in about 1 - 2 % of the younger stroke patients the cause could have been an undiagnosed genetic disease, the so called Fabry disease. The purpose of this study is to determine in a large number of young stroke patients, how many strokes were caused by Fabry Disease.

Aim:

To determine the frequency of Fabry disease in an unselected group of young patients (18 - 55 years of age) with acute cerebrovascular event (CVE)

Fabry disease and stroke:

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. This corresponds to about 1.2 % in the general population of young stroke patients. Therefore the authors stated that Fabry disease must be considered in all cases of unexplained stroke in young patients, especially in cases with the combination of infarction in the vertebrobasilar artery system and proteinuria.

Cryptogenic strokes are cerebrovascular lesions of unknown origin. Clinical and laboratory data show that Fabry disease is itself a risk factor for accelerated atherosclerosis and cardiac and renal disease, which can lead to emboli and hypertension. The pilot-phase started April 2007; the official study started January 2008.

Inclusion Criteria:

• Adult patients (18 - 55 years of age) with an acute cerebrovascular event of any etiology defined as patients having an acute ischemic stroke or transient ischemic attack less than 3 months before enrollment into the study
• MRI-scan evidence of associated corresponding brain infarction or hemorrhage, regardless of the duration of symptoms. Alternatively also patients with no signs of stroke in the MRI can be included if a stroke-experienced neurologist has done the initial diagnosis as ischemic stroke, transient ischemic attack or hemorrhage.
• Detailed MRI documentation at admission to entry to the study
• Diagnostic procedures for CVE according to the EUSI recommendations
• Written informed consent from patient or legal representative according to local regulations

Exclusion Criteria:

• Patients being younger than 18 years or older than 55 years of age.
• Acute ischemic stroke or transient ischemic attack longer than 3 months before enrolment into the study
• Diagnosis of the CVE within the last 3 months has been done by a non-neurologist if there is no MRI-scan evidence of associated brain infarction or hemorrhage
• No detailed MRI documentation at admission to entry to the study