title: Guidance for the evaluation and treatment of hereditary and acquired thrombophilia.
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.
authors.affiliation: Department of Medicine, Intermountain Medical Center, 5121 Cottonwood Street, Murray, UT, 84157-7000, USA. scott.stevensmd@imail.org.|Department of Internal Medicine, University of Utah, Salt Lake City, UT, USA. scott.stevensmd@imail.org.
authors.forename: Scott M
authors.initials: SM
authors.lastname: Stevens
authors.affiliation: Department of Medicine, Intermountain Medical Center, 5121 Cottonwood Street, Murray, UT, 84157-7000, USA.|Department of Internal Medicine, University of Utah, Salt Lake City, UT, USA.
authors.forename: Scott C
authors.initials: SC
authors.lastname: Woller
authors.affiliation: Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
authors.forename: Kenneth A
authors.initials: KA
authors.lastname: Bauer
authors.affiliation: Johns Hopkins Comprehensive Hemophilia Treatment Center, Baltimore, MD, USA.
authors.forename: Raj
authors.initials: R
authors.lastname: Kasthuri
authors.affiliation: Department of Medicine, Cardiovascular Research Institute of Vermont, University of Vermont, Burlington, VT, USA.
authors.forename: Mary
authors.initials: M
authors.lastname: Cushman
authors.affiliation: Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Streiff
authors.affiliation: Department of Medicine, McMaster University, Hamilton, ON, Canada.
authors.forename: Wendy
authors.initials: W
authors.lastname: Lim
authors.affiliation: Department of Medicine, McMaster University, Hamilton, ON, Canada.
authors.forename: James D
authors.initials: JD
authors.lastname: Douketis
mesh_terms: D005260:Female; D006801:Humans; D008297:Male; D017410:Practice Guidelines as Topic; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000175:diagnosis* / Q000628:therapy*; D019851:Thrombophilia / Q000175:diagnosis* / Q000628:therapy*
keywords: Antiphospholipid syndrome; Hereditary thrombophilia; Risk factors; Thrombophilia; Venous thromboembolism