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DESCRIPTIONInherited thrombophilias are a group of disorders that predispose to thrombosis. Genetic testing is available for some of these disorders and could potentially assist in the diagnosis and/or management of patients with thrombosis.
The overall U.S. incidence of venous thromboembolism (VTE) is approximately 1 per 1,000 person-years, and the lifetime clinical prevalence is about 5%, accounting for 100,000 deaths annually. Risk is strongly age-related, with the greatest risk in older populations. VTE also recurs frequently; the estimated cumulative incidence of first VTE recurrence is 30% at 10 years. These figures do not separate patients who had known predisposing conditions from those who do not.
Risk factors for thrombosis include a variety of clinical and demographic variables, and at least one risk factor can be identified in approximately 80% of patients with a thrombosis. The following list includes the most important risk factors:
Treatment of thrombosis involves anticoagulation for a minimum of 3 to 6 months. Following this initial treatment period, patients deemed to be at a continued high risk for recurrent thrombosis may be continued on anticoagulation for longer periods, sometimes indefinitely. Anticoagulation is effective in reducing the subsequent risk of thrombosis, but has its own risks of bleeding.
Pregnancy is often considered a special condition because of its frequency and the unique considerations of preventing and treating VTE in this setting. Pregnancy is associated with a 5-10-fold increase in the risk for VTE, and the absolute risk of VTE in pregnancy has been estimated to be 1-2 per 1,000 deliveries. In women with a previous history of pregnancy-related VTE, the risk of recurrent VTE with subsequent pregnancies is increased greatly at approximately 100-fold.
Inherited thrombophilias are a group of clinical conditions in which there is a genetic variant defect associated with a predisposition to thrombosis. However, not all patients with a genetic predisposition to thrombosis will develop VTE. The presence of inherited thrombophilia will presumably interact with other VTE risk factors to determine an individual’s risk of VTE.
There are a number of conditions that fall under the classification of inherited thrombophilias, which arise from genetic variants in the genes involved in defects in the coagulation cascade. Inherited thrombophilias include the following abnormalities:
The most common type of inherited thrombophilia is a factor V Leiden mutation, which accounts for up to 50% of the inherited thrombophilia syndromes. In unselected patients with an idiopathic thrombosis, the rate of factor V Leiden positivity is in the range of 17-24%, compared to a rate of 5-6% in normal controls. The prothrombin gene mutation is found less commonly, in approximately 5-8% of unselected patients with thrombosis, compared to 2-2.5% of normal controls.
Genetic testing for gene variants associated with thrombophilias is available for factor V Leiden, the prothrombin gene mutation, and the MTHFR gene. The use of genetic testing for inherited thrombophilia can be considered in several clinical situations. The clinical situations that will be addressed in this policy include the following:
More than a dozen commercial laboratories currently offer a wide variety of diagnostic procedures for F2 (prothrombin, coagulation factor II), F5 (coagulation factor V), and MTHFR (5, 10-methylenetetrahydrofolate reductase) genetic testing. These tests are available as laboratory developed procedures under the U.S. Food and Drug Administration (FDA) enforcement discretion policy for laboratory developed tests.
Related medical policies are –
POLICYGenetic testing for inherited thrombophilia, including testing for factor V Leiden mutations, prothrombin gene mutations, and mutations in the MTHFR gene, is considered investigational.
POLICY GUIDELINESInvestigative service is defined as the use of any treatment procedure, facility, equipment, drug, device, or supply not yet recognized by certifying boards and/or approving or licensing agencies or published peer review criteria as standard, effective medical practice for the treatment of the condition being treated and as such therefore is not considered medically necessary.
The coverage guidelines outlined in the Medical Policy Manual should not be used in lieu of the Member's specific benefit plan language.
POLICY HISTORY11/15/2012: Approved by Medical Policy Advisory Committee.
11/06/2013: Policy reviewed; no changes.
SOURCE(S)Blue Cross Blue Shield Association policy # 2.04.82
This may not be a comprehensive list of procedure codes applicable to this policy.