Guidance for the evaluation and treatment of hereditary and acquired thrombophilia.

Scott M Stevens,Raj Kasthuri,Kenneth A Bauer,Wendy Lim,Mary Cushman,James D Douketis,Scott C Woller,Michael Streiff

doi:10.1007/s11239-015-1316-1

Abstract

Thrombophilias are hereditary and/or acquired conditions that predispose patients to thrombosis. Testing for thrombophilia is commonly performed in patients with venous thrombosis and their relatives; however such testing usually does not provide information that impacts management and may result in harm. This manuscript, initiated by the Anticoagulation Forum, provides clinical guidance for thrombophilia testing in five clinical situations: following 1) provoked venous thromboembolism, 2) unprovoked venous thromboembolism; 3) in relatives of patients with thrombosis, 4) in female relatives of patients with thrombosis considering estrogen use; and 5) in female relatives of patients with thrombosis who are considering pregnancy. Additionally, guidance is provided regarding the timing of thrombophilia testing. The role of thrombophilia testing in arterial thrombosis and for evaluation of recurrent pregnancy loss is not addressed. Statements are based on existing guidelines and consensus expert opinion where guidelines are lacking. We recommend that thrombophilia testing not be performed in most situations. When performed, it should be used in a highly selective manner, and only in circumstances where the information obtained will influence a decision important to the patient, and outweigh the potential risks of testing. Testing should not be performed during acute thrombosis or during the initial (3-month) period of anticoagulation.

Highlights

Thrombophilias are hereditary or acquired conditions which can increase the risk of venous or arterial thrombosis
This study suggested a potential harm from screening, as it demonstrated that family members who tested negative for a thrombophilic defect were less likely to use prophylaxis
Thrombophilia testing should not be performed in patients with venous thromboembolism (VTE) following a major provocation as extended anticoagulation is not indicated in these cases

Summary

Introduction

Thrombophilias are hereditary or acquired conditions which can increase the risk of venous or arterial thrombosis. As the etiology of thrombosis is multifactorial, the presence of a thrombophilic defect is only one of many elements that determine risk. The utility of testing for thrombophilia to inform prevention and treatment decisions is controversial. We will review evidence and provide guidance regarding thrombophilia testing to inform clinical decisions regarding duration of anticoagulation following venous thromboembolism (VTE) and primary prevention of VTE in relatives of affected patients. Testing for thrombophilia in the context of arterial thrombosis, and recurrent pregnancy loss is not addressed. Prospective trials have tested the utility of testing for thrombophilia, evidence is taken from epidemiologic studies. Guidance for the evaluation and treatment of hereditary and acquired thrombophilia

Background

Methods

Conclusion

Compliance with ethical standards

Findings

21. Venous Thromboembolic Diseases