[Association of dysfibrinogenemia and thrombosis. Apropos of a family (Fibrinogen Melun) and review of the literature].
We report a family with history of deep and superficial venous thrombosis. A large number of siblings had numerous episodes of deep venous thrombosis and less frequently arterial thrombosis. The most frequent site was lower limb. Dysfibrinogenaemia seems to play an essential role in predisposition to thromboembolism in this family, other known aetiologies having been excluded. Genetic studies of fibrinogen gene show a point mutation in the gamma chain (364 Asp-Val), the site close to gamma 363 one of the sites involved in fibrin monomers polymerisation, although fibrinogen polymerisation is normal. Review of the 250 families with dysfibrinogenaemia published up to now shows that the prevalence of dysfibrinogenaemia in patients with a history of thromboembolism is about 0.7%, and that thrombosis is observed in about 10% of cases of dysfibrinogenaemia. Abortion risk seems to be increased in women with dysfibrinogenaemia. In contrast thromboembolism risk does not seem to be higher during pregnancy, but may be increased after delivery. The main mechanisms which have been proposed to explain thromboembolism observed in dysfibrinogenaemia are: resistance of the clot to thrombolysis; defective thrombin binding; enhanced platelet aggregation; increased blood viscosity, alteration of clot architecture. This family study together with the previously reported cases supports the hypothesis that there is a link between thrombosis and dysfibrinogenaemia in a small number of patients.
Bentolila
S
S
Service d'Hématologie Biologique, Hôtel-Dieu, Paris.
Samama
M M
MM
Conard
J
J
Horellou
M H
MH
Ffrench
P
P
D005260:Female; D005340:Fibrinogen / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic; D012307:Risk Factors; D013924:Thrombophlebitis / Q000209:etiology / Q000235:genetics*
D005340:Fibrinogen
Association dysfibrinogénémie et thrombose. A propos d'une famille (Fibrinogène Melun) et revue de la littérature.