Prothrombin gene variant (G20210A) in a patient with cerebral venous sinus thrombosis.
We describe a 33-year-old woman, who presented with lowered consciousness level and seizures, due to cerebral venous sinus thrombosis with venous haemorrhagic infarcts. The patient. who was taking oral contraceptives, appeared to be heterozygous for a prothrombin gene variant, which is due to a G-->A transition at position 20210. This 20210A prothrombin has recently been established as an important risk factor for cerebral venous sinus thrombosis, which interacts with oral contraceptive use.
van Krimpen
J
J
Department of Neurology, University Hospital Rotterdam, The Netherlands.
Leebeek
F W
FW
Dippel
D W
DW
Gomez Garcia
E
E
D000328:Adult; D003276:Contraceptives, Oral / Q000009:adverse effects; D005165:Factor V / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005343:Fibrinolytic Agents / Q000627:therapeutic use; D020022:Genetic Predisposition to Disease; D006493:Heparin / Q000627:therapeutic use; D006801:Humans; D007275:Injections, Intravenous; D008279:Magnetic Resonance Imaging; D017293:Protein S / Q000032:analysis; D011516:Prothrombin / Q000032:analysis / Q000235:genetics*; D012851:Sinus Thrombosis, Intracranial / Q000188:drug therapy / Q000235:genetics*
D003276:Contraceptives, Oral; D005343:Fibrinolytic Agents; D017293:Protein S; D005165:Factor V; D011516:Prothrombin; D006493:Heparin