Screening for thrombophilic risk factors among 25 German patients with cerebral venous thrombosis

• Published in: Acta neurologica Scandinavica Vol. 102; no. 1; pp. 31 - 36
• Main Authors: Stolz, E., Kemkes-Matthes, B., Pötzsch, B., Hahn, M., Kraus, J., Wirbartz, A., Kaps, M.
• Format: Journal Article
• Language: English
• Published: Copenhagen Munksgaard International Publishers 01.07.2000; Blackwell
• Subjects: Adult; Aged; Biological and medical sciences; Blood Coagulation Disorders - diagnosis; Blood Coagulation Disorders - epidemiology; Blood Coagulation Disorders - genetics; Cerebral Veins; cerebral venous thrombosis; Child, Preschool; dural sinuses; Factor V - genetics; Female; Follow-Up Studies; Genetic Predisposition to Disease; Genetic Testing; Germany - epidemiology; Humans; Intracranial Thrombosis - diagnosis; Intracranial Thrombosis - epidemiology; Intracranial Thrombosis - genetics; intracranial veins; Leiden-mutation; Male; Medical sciences; Middle Aged; Neurology; Polymorphism, Genetic; Protein C - genetics; protein C deficiency; Protein S - genetics; protein S deficiency; Prothrombin - genetics; prothrombin polymorphism; Risk Factors; Thrombophilia - diagnosis; Thrombophilia - epidemiology; Thrombophilia - genetics; Vascular diseases and vascular malformations of the nervous system; Venous Thrombosis - diagnosis; Venous Thrombosis - epidemiology; Venous Thrombosis - genetics; Germany; Human; Hypercoagulability; Nervous system diseases; Factor V Leiden; Prognosis; Deficiency; Cerebral vein; Cardiovascular disease; Protein C; Hemopathy; German; Anticoagulant; Medical screening; Thrombosis; Cerebral disorder; Genetic disease; Venous disease; Vascular disease; Central nervous system disease; Risk factor; Prothrombin; Mutation; Coagulopathy; Cerebrovascular disease
• ISSN: 0001-6314; 1600-0404
• DOI: 10.1034/j.1600-0404.2000.102001031.x

Objectives– 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. Material and 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). Conclusion– 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 oralanticoagulation.