Hyperhomocysteinemia and other newly recognized inherited coagulation disorders (factor V Leiden and prothrombin gene mutation) in patients with idiopathic cerebral vein thrombosis.

Abstract

BACKGROUND:

Idiopathic cerebral vein thrombosis (iCVT) represents approximately 30% of the cases of cerebral vein thrombosis (CVT). New, inherited - factor V Leiden (FVL) and prothrombin gene mutation (PTHRA20210) - and inherited/acquired - hyperhomocysteinemia (HHcy) - prothrombotic conditions have been detected recently.

METHODS:

We assessed fasting plasma homocysteine (Hcy) levels and main Hcy determinants, FVL and PTHRA(20210) in 30 patients with documented iCVT and 40 age- and sex-matched healthy subjects.

RESULTS:

A strong and significant association of PTHRA(20210) [30% (9/30) vs. 2.5% (1/40) iCVT vs. controls, respectively, p = 0.001; OR = 16.174, p = 0.002] and HHcy [13/30 (43.3%) vs. 4/40 (10%) iCVT vs. controls, respectively; p = 0.002, OR = 6.88, p = 0.002] with iCVT was found.

CONCLUSIONS:

PTHRA(20210) and HHcy should be considered when screening for thrombophilia and should be assessed in patients with a family or personal history of CVT.

• Authors: Paolo Ventura, Milena Cobelli, Marco Marietta, Rossana Panini, Maria Cristina Rosa, Gianfranco Salvioli
• Journal: Cerebrovascular diseases (Basel, Switzerland) (Cerebrovasc Dis) Vol. 17 Issue 2-3 Pg. 153-9 ( 2004) ISSN: 1015-9770 [Print] Switzerland
• PMID: 14707415 (Publication Type: Journal Article)
• Copyright: Copyright 2004 S. Karger AG, Basel

Chemical References

• Protein C
• Protein S
• factor V Leiden
• Homocysteine
• Antithrombin III
• Factor V
• Prothrombin

Topics

• Adult
• Antithrombin III (metabolism)
• Cerebral Veins
• Factor V (genetics)
• Female
• Homocysteine (blood)
• Humans
• Hyperhomocysteinemia (epidemiology, genetics)
• Intracranial Thrombosis (epidemiology, genetics)
• Male
• Point Mutation
• Prevalence
• Protein C (metabolism)
• Protein S (metabolism)
• Prothrombin (genetics)
• Risk Factors
• Thrombophilia (epidemiology, genetics)
• Venous Thrombosis (epidemiology, genetics)