title: 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.affiliation: Department of Internal Medicine, University of Modena and Reggio Emilia, Italy. paoloven@unimore.it
authors.forename: Paolo
authors.initials: P
authors.lastname: Ventura
authors.forename: Milena
authors.initials: M
authors.lastname: Cobelli
authors.forename: Marco
authors.initials: M
authors.lastname: Marietta
authors.forename: Rossana
authors.initials: R
authors.lastname: Panini
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Rosa
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Salvioli
mesh_terms: D000328:Adult; D000990:Antithrombin III / Q000378:metabolism; D002550:Cerebral Veins; D005165:Factor V / Q000235:genetics*; D005260:Female; D006710:Homocysteine / Q000097:blood; D006801:Humans; D020138:Hyperhomocysteinemia / Q000453:epidemiology* / Q000235:genetics*; D020767:Intracranial Thrombosis / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D015995:Prevalence; D011486:Protein C / Q000378:metabolism; D017293:Protein S / Q000378:metabolism; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D019851:Thrombophilia / Q000453:epidemiology / Q000235:genetics; D020246:Venous Thrombosis / Q000453:epidemiology / Q000235:genetics
chemical_list: D011486:Protein C; D017293:Protein S; C095381:factor V Leiden; D006710:Homocysteine; D000990:Antithrombin III; D005165:Factor V; D011516:Prothrombin