Screening for thrombophilic risk factors among 25 German patients with cerebral venous thrombosis.
OBJECTIVE
In this study the frequency of inherited thrombophilic risk factors in a population of German CVT patients and their influence on clinical outcome were evaluated.


METHODS
Twenty-five patients (age 37.1 +/- 16.3 years) with CVT were screened for inherited coagulation disorders. All participants received a full clinical follow-up (mean follow-up period 4.8 +/- 6.4 years).


RESULTS
Inherited thrombophilic risk factors were identified in 9 (36%) of the 25 patients studied. Four were found positive for the heterozygous factor V Leiden mutation, 2 were heterozygous carriers of the prothrombin-G20210A-polymorphism. APC resistance proved to be a reliable screening method for factor V Leiden mutation, whereas genetic evaluation for protein S and C deficiencies failed to demonstrate any mutations despite the identification of 1 patient with a protein C and protein S deficiency each. One patient suffered from a familial plasminogen deficiency. These 9 patients had a less favorable outcome (P < 0.05).


CONCLUSIONS
Our results demonstrate that screening for inherited thrombophilia should be an integral part in the diagnostic work up of CVT patients. Patients with inherited coagulopathies tended to have a less favorable outcome, corroborating recommendations for a longer period of oral anticoagulation.
Stolz
E
E
Department of Neurology, Justus-Liebig-University, Giessen, Germany. erwin.stolz@neuro.med.uni
Kemkes-Matthes
B
B
Pötzsch
B
B
Hahn
M
M
Kraus
J
J
Wirbartz
A
A
Kaps
M
M
D000328:Adult; D000368:Aged; D001778:Blood Coagulation Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D002550:Cerebral Veins; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005858:Germany / Q000453:epidemiology; D006801:Humans; D020767:Intracranial Thrombosis / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011486:Protein C / Q000235:genetics; D017293:Protein S / Q000235:genetics; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D019851:Thrombophilia / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D020246:Venous Thrombosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics
D011486:Protein C; D017293:Protein S; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin