Screening for inherited thrombophilia in asymptomatic adults
- Kenneth A Bauer, MD
Kenneth A Bauer, MD
- Professor of Medicine
- Harvard Medical School
Inherited thrombophilia denotes several genetic risk factors that predispose individuals to developing venous thromboembolism. Factor V Leiden is the most common. The prothrombin gene mutation, deficiencies in protein S, protein C, and antithrombin account for most of the remaining cases, while rare causes include certain dysfibrinogenemias. The total prevalence of an inherited thrombophilia in patients with a deep vein thrombosis varies based upon patient selection and ethnicity; in Caucasian populations, it can be as high as 40 percent overall compared with about 10 percent in controls. (See "Overview of the causes of venous thrombosis", section on 'Inherited thrombophilia'.)
This review will discuss the usefulness of screening for these conditions in asymptomatic adults [1,2].
Separate topic reviews discuss screening for inherited thrombophilia in children and the diagnostic approach to a patient presenting with venous thromboembolism (VTE):
●Screening in children – (See "Screening for inherited thrombophilia in children".)
●Diagnostic approach in a patient with VTE – (See "Evaluating adult patients with established venous thromboembolism for acquired and inherited risk factors".)To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
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- GENERAL SCREENING ISSUES
- Arguments against screening
- Arguments in favor of screening
- SCREENING FOR SPECIFIC INHERITED THROMBOPHILIAS
- Factor V Leiden
- Homozygosity and multiple defects
- Protein C deficiency
- Antithrombin deficiency
- SCREENING IN HIGH RISK SITUATIONS
- Oral contraceptives
- Obstetric complications
- DEFECTS FOR WHICH SCREENING IS NOT HELPFUL
- Homocysteine, MTHFR variants, and PAI-1 4G/5G promoter variants
- Elevated coagulation factor levels
- INFORMATION FOR PATIENTS