An episode of DVT without a provoking factor used to be considered an indication for testing for hypercoagulability. However, current approach to this question is to consider such testing unreliable and not to use it for clinical decision making.
Hypercoagulable states can be defined as a group of inherited or acquired conditions associated with a predisposition to venous thrombosis, arterial thrombosis, or both. Venous thromboembolic disease is the most common clinical manifestation resulting from hypercoagulable states. A number of inherited conditions can not be tested for; however, unfortunately there are no accepted guidelines as to what constitutes indications for such testing.The American College of Medical Genetics and the College of American Pathologists state that this testing is appropriate to use widely because the polymorphisms that predispose to thromboses are fairly widespread; however, they have listed the situations in which thrombophilia testing should not be used. These include: for general screening, routine during pregnancy, routine screening prior to the use of oral contraceptives, prenatal or newborn screening , testing of asymptomatic children, routine testing in adults with an arterial thrombosis.
The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group found adequate evidence to recommend against routine testing for Factor V Leiden (FVL) and/or prothrombin 20210G>A (PT) in the following circumstances: (1) adults with idiopathic venous thromboembolism (VTE). In such cases, longer term secondary prophylaxis to avoid recurrence offers similar benefits to patients with and without one or more of these mutations. (2) Asymptomatic adult family members of patients with VTE and an FVL or PT mutation, for the purpose of considering primary prophylactic anticoagulation. Potential benefits are unlikely to exceed potential harms. The overall certainty of these findings was deemed “moderate.” The evidence was insufficient to determine whether FVL/PT testing might have clinical utility in some circumstances, such as for identifying FVL homozygosity among asymptomatic family members of adults with idiopathic VTE or counseling patients about the risks and benefits of antithrombotic therapy. Based on the available evidence, the certainty of net health benefit was deemed “low.” The recommendations do not extend to patients with other risk factors for thrombosis, such as contraceptive use, as the evidence review that serves as the basis for the recommendations focused primarily on idiopathic VTE.
The American Society of Hematology ran a Choose Widely campagn in 2013, to educate physicians to do such testing only in very rare circumstances.
These recommendations were seconded in the most recent review on the subject, by J. Connors in the New England Journal of Medicine.
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. Recommendations from the EGAPP Working Group: routine testing for factor V Leiden (R506Q) and prothrombin (20210>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members. Genet Med 2011:13:67–76.Moll S. Who should be tested for thrombophilia? Genet Med 2011:13:19-20.
Colleen M. Johnson, MD Hypercoagulable States: A Review Vascular and Endovascular Surgery, Vol. 39, No. 2, 123-133 (2005)
Bates SM. Management of pregnant women with thrombophilia or a history of venous thromboembolism. Hematology Am Soc Hematol Educ Program. 2007;143-50
Seligsohn U, Lubetsky A. Genetic susceptibility to venous thrombosis. N Engl J Med. 2001;344:1222-1231.
Bates SM, Greer IA, Pabinger I, Sofaer S, Hirsh J. Venous thromboembolism, thrombophilia, antithrombotic therapy, and pregnancy: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines (8th Edition). Chest. Jun 2008;133(6 suppl):844S-886S.
A.Auerbach, G.Sanders, J.HambletonCost-effectiveness of testing for hypercoagulability and effects on treatment strategies in patients with deep vein thrombosis The American Journal of Medicine, Volume 116, Issue 12, Pages 816-828, 2004
Saskia Middeldorp Evidence-based approach to thrombophilia testing. J Thromb Thrombolysis. 2011 Apr; 31(3): 275–281
Jean M. Connors, M.D, Thrombophilia Testing and Venous Thrombosis. N Engl J Med 2017; 377:1177-1187September 21, 2017
Current recommendations are not to test for thrombophilia in asymptomatic family members of patients with VTE or hereditary thrombophilia.
Stevens SM, Woller SC, Bauer KA, et al. Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. Journal of Thrombosis and Thrombolysis. 2016;41:154-164.American College of Medical Genetics Practice Guidelines: Lack of Evidence for MTHFR Polymorphism Testing. Scott E. Hickey, M.D., FACMG, Cynthia J. Curry, M.D., FACMG and Helga V. Toriello, PhD, FACMG, Genetics in Medicine 2013:15(2):153-156
American College of Obstetricians and Gynecologist (ACOG) Inherited Thrombophilias in Pregnancy. September 11, 2011 ACOG practice bulletin; no 124