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Cerebral vein thrombosis and prothrombin gene (G20210A) mutation
J G Heckmann1, B Tomandl, F Erbguth
1Department of Neurology, University of Erlangen-Nuremberg, Schwabachanlage 6, 91054, Erlangen, Germany. josef.heckmann@neuro.med.uni-erlangen.de
Clinical Neurology and Neurosurgery
|September 5, 2001
Summary
The prothrombin gene mutation G20210A is linked to increased thrombosis risk, including rare cases of cerebral vein thrombosis (CVT). Testing for this mutation is recommended for patients diagnosed with CVT.
Area of Science:
- Hematology
- Genetics
- Neurology
Background:
- The prothrombin gene mutation G20210A is a known risk factor for thrombosis.
- Cerebral vein thrombosis (CVT) is a rare but serious condition.
- The association between prothrombin gene mutation G20210A and CVT is infrequently observed.
Observation:
- Three patients with the prothrombin gene mutation G20210A developed CVT.
- Each patient presented with unique contributing factors: valproic acid use, delayed diagnosis during pregnancy, and late-onset CVT at age 78.
- These cases highlight the complex interplay of genetic predisposition and other factors in CVT development.
Findings:
- The prothrombin gene mutation G20210A can predispose individuals to CVT.
- The manifestation of CVT in patients with this mutation can be influenced by various factors, including medication and patient age.
- Diagnosis of the prothrombin gene mutation G20210A may be delayed, as seen in one case during pregnancy consultation years after CVT.
Implications:
- Coagulation screening in patients with CVT should include testing for the prothrombin gene G20210A mutation.
- Early identification of this genetic risk factor can inform clinical management and potentially prevent future thrombotic events.
- Further research is warranted to understand the specific mechanisms and risk modifiers associated with prothrombin gene mutation G20210A in CVT.