Review Article: Inherited Thrombophilia in Inflammatory Bowel Disease

Abstract

Individuals with inflammatory bowel disease frequently experience increased systemic thromboembolic complications, which represent an important cause of morbidity and mortality. Risk factors for thrombosis can be inherited or acquired. The most common inherited risk factors for thromboembolism are factor V Leiden mutation, G20210A mutation in the prothrombin gene, and homozygous C677T mutation in the methylenetetrahydrofolate reductase gene. In the last few years, a great amount of literature has focused on the prevalence of such genetic mutations and their role in determining thrombosis in IBD patients. In this review, we summarize the results of these studies.

Common carotid arterial thrombosis associated with ulcerative colitis

“…Thrombophilias are found in 33%-50% of patients in the general population with venous thromboembolism [21,22] , and factor V Leiden mutation or activated protein C (APC) resistance is the most frequent genetic abnormality [15] . In IBD patients, the incidence of APC resistance or factor V Leiden mutation might no be increased [13,23,24] . While APC resistance itself is not possibly associated with IBD, it does appear to increase the risk of thromboembolic events when present [14] .…”

Venous thromboembolism with infl ammatory bowel disease

“…Factor V Leiden causes the activated form of factor V to be relatively resistant to degradation by activated protein C with www.wjgnet.com Hugh James Freeman, MD, FRCPC, FACP, Series Editor increased generation of thrombin. Factor V Leiden is often detected with venous thrombosis, but, to date, no difference between patients with inflammatory bowel disease and those without inflammatory bowel disease has been defined [18] . In addition, a genetic variation of the prothrombin gene, G20210A, may be associated with deep venous thrombosis, but no definite association between this gene mutation and inflammatory bowel disease has been detected [18] .…”

“…Factor V Leiden is often detected with venous thrombosis, but, to date, no difference between patients with inflammatory bowel disease and those without inflammatory bowel disease has been defined [18] . In addition, a genetic variation of the prothrombin gene, G20210A, may be associated with deep venous thrombosis, but no definite association between this gene mutation and inflammatory bowel disease has been detected [18] . Also, a mutation in the methylenetetrahydrofolate reductase gene, C677T, may cause hyperhomocysteinemia but no differences have been detected between inflammatory bowel disease patients with thrombosis compared to controls with thrombosis [18] .…”

“…In addition, a genetic variation of the prothrombin gene, G20210A, may be associated with deep venous thrombosis, but no definite association between this gene mutation and inflammatory bowel disease has been detected [18] . Also, a mutation in the methylenetetrahydrofolate reductase gene, C677T, may cause hyperhomocysteinemia but no differences have been detected between inflammatory bowel disease patients with thrombosis compared to controls with thrombosis [18] . Finally, an inherited Val34Leu factor ⅩⅢ polymorphism has been found to be similar in inflammatory bowel disease compared to the general population [20,21] .…”

“…Genetic factors may also play a role in patients with inflammatory bowel disease and have been reviewed elsewhere [18] . Some may be more significant during remission or less active phases of inflammation [19] .…”