Choosing Wisely®: Thrombophilia Testing
Blood clots can be life threatening and cause concern among patients and doctors alike. Often, there is a concern that a patient is genetically predispositioned to clotting and testing for thrombophilia is considered.
Early recognition of thrombophilia can provide opportunities to reduce the morbidity and mortality related to these conditions; however, testing for thrombophilia may not be benefit to some of patients.
Thrombophilia, also known as hypercoagulability, can be either inherited or acquired during the course of a patient’s lifetime. An event in a patient’s life, such as a blood clot in the leg, can suggest to some caregivers that a patient may be thrombophilic and should be screened for thrombophilia. Testing is widely available; however, it may not be indicated.
Subspecialty physicians in the American Society for Hematology and the Society for Vascular Medicine agree that a single clotting event such as deep vein thrombosis should not result in testing unless there is a strong family history of thrombophilia or another clearly defined risk factor. Transient risk factors, such as trauma, intravascular catheter, or surgery are considered as low risk for recurrence of thrombophilia.
In a recent article titled “The Futility of Thrombophilia Testing”, the author states, “[…]general assessment of thrombophilia in patients is not useful, even in those who have had a thrombosis. Indeed, ‘less discriminate’ testing leads to outcomes that are worse than not having investigated at all.” He goes on to cite the risk of over-treatment and misdiagnosis as two of those outcomes.
Joyce Rogers, MD, PhD, a specialist in Hemostasis and Thrombosis at Cleveland Clinic, notes that the treatment for venous thromboembolism is not affected by the result of thrombophilia testing in patients with transient risk factors.
Because of the complexity of thrombophilia, patients who have a strong family history with a major transient risk factor, recurrent venous thromboembolism, or first episode of venous thromboembolism in a young age (<40 years old), in pregnancy, or while undergoing hormonal therapy should seek clinicians with expertise in the treatment of coagulation disorders. If the patient indeed requires thrombophilia testing, clinicians consider that many concurrent clinical conditions can affect results of thrombophilia testing. These tests should be performed at least 4-6 weeks after an acute thrombotic event or discontinuation of anticoagulant therapies.
Clinical Chemistry and Laboratory Medicine. Volume 52, Issue 4, Pages 499–503, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621,DOI: 10.1515/cclm-2013-0560, August 2013
Clinical Chemistry and Laboratory Medicine. Volume 52, Issue 4, Pages 495–497, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621,DOI: 10.1515/cclm-2013-0559, August 2013
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