Document Detail


Familial thrombophilia associated with fibrinogen paris V: Dusart syndrome.
MedLine Citation:
PMID:  10910944     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on a family with a history of venous thromboembolism associated with fibrinogen Paris V (fibrinogen Aalpha-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.
Authors:
T Tarumi; D Martincic; A Thomas; R Janco; M Hudson; P Baxter; D Gailani
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Blood     Volume:  96     ISSN:  0006-4971     ISO Abbreviation:  Blood     Publication Date:  2000 Aug 
Date Detail:
Created Date:  2000-08-24     Completed Date:  2000-08-24     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7603509     Medline TA:  Blood     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1191-3     Citation Subset:  AIM; IM    
Affiliation:
Departments of Pathology, Medicine, and Pediatrics, Vanderbilt University, Nashville, TN 37232-6305, USA.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Female
Fibrinogens, Abnormal / genetics*
Humans
Middle Aged
Mutation
Pedigree
Thrombophilia / genetics*
Grant Support
ID/Acronym/Agency:
HL58837/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/Fibrinogens, Abnormal; 0/fibrinogen Dusard

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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