[A new hereditary cause of portal vein thrombosis: the abnormal resistance to activated protein C by the Arg 506-->Gln mutation of the gene of factor V].
We report 2 cases of portal vein thrombosis associated with a single point mutation in the factor V gene that replaces arginine in residue 506 with glutamine. This mutation induces abnormal resistance to anticoagulant activity of activated protein C and increases the risk of deep vein thrombosis. Both patients had a personal and familial history of deep vein thrombosis. Intraabdominal neoplasia or infection, myeloproliferative disorder, antiphospholipid syndrome, paroxysmal nocturnal hemoglobinuria and coagulation inhibitor deficiency (antithrombin, proteins C and S) were excluded by exhaustive investigation. However, an abnormal resistance to activated protein C was found, and DNA analysis showed the factor V Arg506 to Gln mutation in both cases. Anticoagulant treatment was begun. A study of family history made in one case, showed the same genetic disease in one of the relatives. Resistance to activated protein C with factor V gene mutation should be investigated in patients with portal vein thrombosis. A study of family history, and anticoagulant treatment are justified for symptomatic patients.
Service d'Hépato-Gastroentérologie, Hôpital Broussais, Paris.
D
D
Levoir
J M
JM
Aubertin
M
M
Alhenc-Gelas
F
F
Bloch
H
H
Becheur
J P
JP
Petite
D001778:Blood Coagulation Disorders / Q000150:complications* / Q000188:drug therapy; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005165:Factor V / Q000235:genetics; D005260:Female; D005796:Genes / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011169:Portal Vein; D011486:Protein C; D013927:Thrombosis / Q000209:etiology* / Q000235:genetics; D014812:Vitamin K / Q000037:antagonists & inhibitors / Q000627:therapeutic use
D011486:Protein C; D014812:Vitamin K; D005165:Factor V
Une nouvelle cause héréditaire de thrombose portale: la résistance anormale à la protéine C activée par mutation Arg506-->Gln du gène du facteur V.