Blood, Vol. 96 No. 3 (August 1), 2000:
pp. 1191-1193
BRIEF REPORT
Familial thrombophilia associated with fibrinogen Paris V: Dusart
syndrome
Takashi Tarumi,
Danko Martincic,
Anne Thomas,
Robert Janco,
Mary Hudson,
Patricia Baxter, and
David Gailani
From the Departments of Pathology, Medicine, and Pediatrics,
Vanderbilt University, Nashville, TN.
We report on a family with a history of venous thromboembolism
associated with fibrinogen Paris V (fibrinogen
A
-Arg554
Cys). Ten members experienced thrombotic events,
including 4 with fatal pulmonary emboli. Pulmonary embolism was the
presenting feature in 4. Those with the mutation and a history of
thrombosis had somewhat higher fibrinogen concentrations than those
with the mutation and no thrombosis (294 ± 70 mg/dL vs 217 ± 37
mg/dL, 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 apparently unrelated
families, indicating that it is a relatively common cause of
dysfibrinogenemia-associated thrombosis.
