[Cerebral venous thrombosis and familial prothrombin gene G20210a mutation].
BACKGROUND
The prothrombin gene variant G20210A was first described as a risk factor for deep vein thrombosis, and recently for cerebral venous thrombosis, although reported cases had other concomitant risk factors.


METHODS
A 33 years old woman, with no previous vascular nor thrombotic risk factors, was admitted with thrombosis of superior longitudinal, lateral and sigmoid right sinus. The father had deep venous thrombosis 3 years before. One year later, the 29 year old sister of the proband, developed massive deep venous thrombosis, when she was 8 months pregnant. Laboratory investigations showed elevated anticardiolipin antibodies titer in the proband. Prothrombin activity was in the normal range in the 3 patients. Prothrombin gene mutation G 20210A was detected in the 3 patients.


CONCLUSIONS
As the presence of more than one thrombophilic factor (in the reported case, prothrombin G20210A mutation and anticardiolipin antibodies) increases the likehood of a thrombotic event, it is useful to screen for thrombotic genetic conditions, even when other vascular risks are present, and vice versa.
Verdelho
A
A
Serviço de Neurologia; Hospital de Santa María.Centro de Estudios Egas Moniz, Lisboa, 1649-035, Portugal. jmferro@ip.pt
Ferro
J M
JM
Palmeiro
A
A
Antunes
C
C
D000328:Adult; D017153:Antibodies, Anticardiolipin / Q000235:genetics; D000974:Antibodies, Antinuclear / Q000235:genetics; D001921:Brain / Q000473:pathology; D005260:Female; D006801:Humans; D020767:Intracranial Thrombosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011516:Prothrombin / Q000235:genetics*; D020246:Venous Thrombosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*
D017153:Antibodies, Anticardiolipin; D000974:Antibodies, Antinuclear; D011516:Prothrombin