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12th Congress of the European Hematology Association
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Webcast Presentation
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Thrombophilia: from single gene disorder to complex disease
Prof. R. Bertina, Leiden, Netherlands
 - Biography
English - 2007-06-08
Topic: Thrombosis
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Speaker Disclosure
NWO Grant 912-02-036
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(
51 slide(s)
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Summary
Venous thrombosis (VT) is an episodic disease. Blood clots are formed in veins which obstruct the circulation of the blood locally or, after the formation of emboli, elsewhere in the circulation. Acute events can be treated effectively by anticoagulant treatment aiming at prevention both of clot extension and the occurrence of recurrencies. The intensity of the treatment needs to be carefully monitored to prevent bleeding complications.
The annual incidence of venous thrombosis is 1-3 /1000 and strongly increases with age, suggesting that non-genetic factors play an important role in the pathogenesis of the disease. However, familial clustering of VT (familial thrombophilia) is also observed and indicates a possible heritable cause of the disease, provided that environmental sharing can be excluded. Recently, the heritability of VT has been estimated to be 0.5-0.6. Knowledge of the thrombosis susceptibility alleles and the way they interact with each other and the environment, is crucial both for identifying the pathways and molecular mechanisms involved in thrombus formation and for the identification and treatment of individuals at risk.
The search for these genetic factors has a long history and has been influenced both by the progress in our knowledge of the blood coagulation system and, more recently, by the advances made in the field of gene analysis and genotyping. It all started with the study of the segregation of prothrombotic plasma phenotypes in thrombophilia families, while presently genotyping of hundreds of thrombosis patients and healthy subjects for thousends of single nucleotide polymorphisms is a realistic option. However, in spite of all efforts, we still do not know a significant part of the thrombosis susceptibility alleles which contribute to the familial clustering of thrombosis. Ongoing studies to find these alleles will be discussed in the context of what we have learned on the genetics of venous thrombosis during the past decades.
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