Familial thrombophilia associated with fibrinogen Paris V: Dusart syndrome

We report on a family with a history of venous thromboembolism associated w ith fibrinogen Paris V (fibrinogen A alpha-Arg554-->Cys), Ten members exper ienced thrombotic events, including 4 with fatal pulmonary emboli, Pulmonar y embolism was the presenting feature in 4, Those with the mutation and a h istory of thrombosis had somewhat higher fibrinogen concentrations than tho se with the mutation and no thrombosis (294 +/- 70 mg/dL vs 217 +/- 37 mg/d L., respectively), The Paris V mutation consistently caused a prolongation of the reptilase time, and fibrin clots containing the abnormal fibrinogen were more translucent than normal clots. Given the early onset of symptoms and the initial presentation with pulmonary embolism in some family members , it was justifiable to offer prophylactic anticoagulation with warfarin to carriers of the mutation. Fibrinogen Paris V has now been reported in 4 ap parently unrelated families, indicating that it is a relatively common caus e of dysfibrinogenemia-associated thrombosis. (C) 2000 by The American Soci ety of Hematology.