Skip to Main Content

++

INTRODUCTION

++

SUMMARY

Thrombophilia refers to laboratory abnormalities that increase the risk of venous thromboembolism (VTE). Over the last several decades numerous factors have been identified. The most prevalent examples of hereditary forms of thrombophilia include the factor V Leiden and prothrombin G20210A mutations; deficiencies of the natural anticoagulants antithrombin, protein C, and protein S; persistently elevated levels of coagulation factor VIII; and mild hyperhomocysteinemia. Taken together, some form of hereditary thrombophilia can be identified in more than 50 percent of patients with VTE who are without obvious reasons for VTE, such as trauma or prolonged stasis. Moreover, hereditary thrombophilia has been associated with arterial cardiovascular disease and obstetric complications such as (recurrent) pregnancy loss and preeclampsia. The high yield of thrombophilia testing has led to widespread testing for these abnormalities in patients. Nevertheless, thrombophilia testing remains a topic of ongoing debate, mostly because of the lack of therapeutic consequences. While hereditary thrombophilia is a clear risk factor for a first VTE, the risk for recurrent episodes is hardly increased compared with nonaffected patients and prolonged anticoagulation is not warranted unless VTE is recurrent. A similar lack of therapeutic consequences applies to patients with arterial cardiovascular disease and women with obstetric complications. Thrombophilia testing in asymptomatic relatives of patients with VTE may be useful in families with antithrombin, protein C, or protein S deficiency, or for siblings of patients who are homozygous for factor V Leiden, and is limited to women who intend to become pregnant or who would like to use oral contraceptives. Careful counseling with knowledge of absolute risks helps patients to making an informed decision in which their own preferences can be taken into account.

++

Acronyms and Abbreviations

95% CI, 95% confidence interval; APC, activated protein C; ASA, acetylsalicylic acid; HELLP, hemolysis, elevated liver enzymes, low platelets; LMWH, low-molecular-weight heparin; MTHFR, methylenetetrahydrofolate reductase; OR, odds ratio; VKA, vitamin K antagonist; VTE, venous thromboembolism; VWF, von Willebrand factor.

++

To our knowledge, the term thrombophilia was first used by Nygaard and Brown in 1937, when they described sudden occlusion of large arteries, sometimes with coexistent venous thrombosis.1 In 1956, Jordan and Nandorff extensively reviewed their own and previously published cases on the familial tendency in thromboembolic disease.2 The term thrombophilia was then used to describe patients with prominent manifestations of venous thromboembolism (VTE; venous thrombosis in any site or pulmonary embolism) such as recurrent spontaneous VTE, VTE at young age, a strong family history of VTE, or thrombosis in an unusual site, such as the splanchnic veins or cerebral sinuses. Currently, the term thrombophilia is generally used for laboratory abnormalities, usually in the coagulation system, which increase the risk of VTE. Thrombophilia can be either acquired or hereditary. An example of acquired thrombophilia is the antiphospholipid syndrome, which is characterized by a tendency toward venous or arterial thrombosis or pregnancy complications, in combination with persistent lupus anticoagulant or antibodies to cardiolipin or β2-glycoprotein-1 ...

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.