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 Young Stroke Patients
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