Document Detail

Inherited thrombophilia and venous thromboembolism.
MedLine Citation:
PMID:  17024597     Owner:  NLM     Status:  MEDLINE    
The term thrombophilia includes any inherited and acquired disorders associated with an increased tendency to venous thromboembolism (VTE). Inherited thrombophilia is one of the main determinants of VTE, and the presence of inherited thrombophilic defects exposed carriers to increased risks for VTE compared with noncarriers. There is no clear relationship between clinical manifestations and the type of underlying thrombophilic defect. Thus, the diagnosis of inherited thrombophilia has to be established on a laboratory basis. Carriers of thrombophilic defects may experience thrombosis at a younger age than noncarriers. However, a first thrombotic manifestation that occurs late in life may also be an expression of thrombophilia and this remains in many cases the only etiopathogenetic explanation for the event. Screening of family members of symptomatic probands has the potential to identify still asymptomatic carriers who may benefit from more appropriate thromboprophylaxis during high-risk situations for VTE. Women of fertile age who belong to these thrombophilic families might receive the greatest advantage from screening. Many inherited thrombophilic disorders can be considered risk factors for recurrent VTE, especially if more than one defect is present in the same patient. More intensive or prolonged duration of VTE treatment might be requested for the prevention of recurrent VTE in the most severe thrombophilic conditions. The availability of new methods for the assessment of thrombin generation in terms of endogenous thrombin potential are very promising tools for the identification of those carriers of inherited thrombophilia who will develop thrombosis or who will encounter recurrence of VTE.
Paolo Simioni; Daniela Tormene; Luca Spiezia; Giulio Tognin; Valeria Rossetto; Claudia Radu; Paolo Prandoni
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Seminars in thrombosis and hemostasis     Volume:  32     ISSN:  0094-6176     ISO Abbreviation:  Semin. Thromb. Hemost.     Publication Date:  2006 Oct 
Date Detail:
Created Date:  2006-10-06     Completed Date:  2006-11-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0431155     Medline TA:  Semin Thromb Hemost     Country:  United States    
Other Details:
Languages:  eng     Pagination:  700-8     Citation Subset:  IM    
Department of Medical and Surgical Sciences, University of Padua, Medical School, Padua, Italy.
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MeSH Terms
Heterozygote Detection
Risk Factors
Thromboembolism / etiology*,  prevention & control
Thrombophilia / complications*,  diagnosis,  genetics*
Venous Thrombosis / etiology*,  prevention & control

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