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Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 2009
The paradigm of inherited thrombophilia as a cause of unprovoked venous thrombosis among young people and associated with a high clinical penetrance among members of the same kindred is challenged by many diagnosed cases not fitting this paradigm, although inherited thrombophilia is still the most likely diagnosis in most cases.
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The paradigm of inherited thrombophilia as a cause of unprovoked venous thrombosis among young people and associated with a high clinical penetrance among members of the same kindred is challenged by many diagnosed cases not fitting this paradigm, although inherited thrombophilia is still the most likely diagnosis in most cases.
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Genetic counseling for inherited thrombophilias
Journal of Thrombosis and Thrombolysis, 2007Genetic testing for inherited thrombophilia, including mutation analysis for factor V Leiden and prothrombin G20210A, is commonly performed. Yet, tests for inherited thrombophilia are frequently ordered inappropriately, and without proper counseling about the risks, benefits and limitations of testing.
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Thrombophilia can be defined as laboratory abnormalities, usually in the coagulation system, that result in a hypercoagulable state and thus predispose to thrombosis. These abnormalities may be acquired or inherited. The most clearly established form of acquired thrombophilia is the antiphospholipid anti- body syndrome.
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The Importance of Inherited Thrombophilias
Plastic and Reconstructive Surgery, 2008openaire +2 more sources