What thrombophilia workup is recommended for a 60-year-old radiologist with an unprovoked pulmonary embolism and ulcerative colitis, currently on Xarelto (rivaroxaban)?

From the Guidelines

For a 60-year-old radiologist with unprovoked pulmonary embolism, ulcerative colitis, and already on Xarelto, I strongly recommend a comprehensive thrombophilia workup that includes factor V Leiden mutation, prothrombin gene mutation (G20210A), antiphospholipid antibody panel, protein C and S levels, and antithrombin III activity, as this will significantly impact the management of their condition and reduce the risk of recurrent thrombosis and mortality 1.

Key Considerations

• The patient's history of unprovoked pulmonary embolism and ulcerative colitis increases their risk for recurrent thrombotic events, and a thorough thrombophilia workup is essential to guide treatment decisions.
• The workup should include a combination of genetic and functional tests to identify potential thrombophilic conditions, such as factor V Leiden and prothrombin gene mutations, antiphospholipid syndrome, and deficiencies in natural anticoagulants like protein C, protein S, and antithrombin III.
• The timing of the workup is crucial, and ideally, it should be performed either before starting anticoagulation or after completing at least a 2-week break from Xarelto, as anticoagulants can affect the results of certain tests, particularly the functional assays for protein C, protein S, and antithrombin III 1.
• However, genetic tests like factor V Leiden and prothrombin gene mutation are not affected by anticoagulation and can be performed while on Xarelto.
• The results of the thrombophilia workup will help determine the optimal duration of anticoagulation therapy, as certain thrombophilias may warrant indefinite treatment, especially with an unprovoked PE in a patient with inflammatory bowel disease who already has multiple risk factors for recurrent thrombosis.

Additional Testing

• Considering the patient's inflammatory bowel disease, testing for homocysteine levels and methylenetetrahydrofolate reductase (MTHFR) mutation may also be valuable to identify potential additional risk factors for thrombosis.
• The patient's overall clinical presentation, medical history, and risk factors should be taken into account when interpreting the results of the thrombophilia workup and making treatment decisions.

Management Implications

• The results of the thrombophilia workup will have significant implications for the patient's management, including the duration and intensity of anticoagulation therapy, and the need for ongoing monitoring and follow-up.
• A comprehensive approach to the patient's care, including close collaboration between the patient's healthcare providers, is essential to ensure optimal outcomes and minimize the risk of recurrent thrombotic events.

From the FDA Drug Label

The FDA drug label does not answer the question.

From the Research

Thrombophilia Workup for a 60-year-old Radiologist

• The patient's condition of unprovoked pulmonary embolism and ulcerative colitis, while on Xarelto (rivaroxaban), requires consideration of thrombophilia workup 2
• Thrombophilia evaluation is commonly performed in patients with pulmonary embolism for risk stratification and treatment planning, but its utility remains unclear in many clinical scenarios 2
• Current guidelines advise limited use of thrombophilia testing, as it may not lead to a change in management and can cause increased anxiety in patients and clinicians 2
• The patient's ulcerative colitis is a significant factor, as inflammatory bowel disease predisposes to thromboembolic episodes, and thrombosis can maintain the inflammatory process 3, 4
• Hyperhomocysteinaemia, which can be associated with ulcerative colitis, is a potential thrombophilic condition that may require screening and supplementation with folic acid and cyanocobalamin 3
• Genetic causes of thrombophilia, including antithrombin III, protein C, protein S, factor V Leiden, prothrombin 20210A allele, and MTHFR mutations, may be considered in the workup 5
• However, the utility of thrombophilia testing in this patient's scenario is uncertain, and it should be employed judiciously, only if it is likely to alter clinical management 2