Screening for inherited thrombophilia in asymptomatic individuals
- 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 various asymptomatic populations [1,2]. The diagnostic approach to the patient presenting with thrombosis and management of inherited thrombophilias are discussed separately. (See "Evaluating patients with established venous thromboembolism for acquired and inherited risk factors" and "Factor V Leiden and activated protein C resistance" and "Prothrombin G20210A mutation" and "Antithrombin deficiency" and "Protein C deficiency" and "Protein S deficiency".)
GENERAL SCREENING ISSUES
Screening techniques are used clinically to identify individuals at risk for a preventable disease or complication. Reliable assays are now available to test for the presence of the various causes of inherited thrombophilia (table 1).
However, unselected population-based screening for inherited thrombophilia is not recommended because of three salient factors:
●The low frequency of the symptomatic condition in the general population (table 2)
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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 and the MTHFR variant
- Elevated coagulation factor levels
- INFORMATION FOR PATIENTS