首页> 外文期刊>Journal of research in medical sciences : >COMBINED PORTAL, SPLENIC AND MESENTERIC VENOUS THROMBOSIS IN INACTIVE ULCERATIVE COLITIS WITH HETEROZYGOUS MUTATION IN MTHFR GENE: A RARE CASE OF THROMBOPHILIA (CASE REPORT)
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COMBINED PORTAL, SPLENIC AND MESENTERIC VENOUS THROMBOSIS IN INACTIVE ULCERATIVE COLITIS WITH HETEROZYGOUS MUTATION IN MTHFR GENE: A RARE CASE OF THROMBOPHILIA (CASE REPORT)

机译:非活动性溃疡性结肠炎中门静脉,脾脏和肠系膜静脉血栓形成合并MTHFR基因杂合突变:血栓形成的罕见病例(病例报告)

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Thrombophilia is a rare but potentially catastrophic phenomenon occurring in patients having tendency of thrombosis. It may lead to serious complications. The etiology of thrombophilia is thought to be multifactorial and related to both acquired and inherited factors. Inflammatory bowel disease is an acquired cause of thrombophilia. Thromboembolic events are seen during inflammatory bowel disease, especially during the active period of the disease. In inflammatory bowel disease, thrombus formation in portal, splenic and mesenteric veins are not common. Besides, the association of genetic disorders related to metabolism of homocysteine with inflammatory bowel disease has been evidenced, especially in Crohn disease and rarely in ulcerative colitis. We present a rare case of ulcerative colitis in association with combined portal, splenic and mesenteric vein thrombosis. The patient was recently diagnosed with the disease which was in the inactive period. Interestingly, our patient was also heterozygous for the mutation in methylenetetrahydrofolate reductase (MTHFR) gene.
机译:血栓形成倾向是一种罕见的,但潜在的灾难性现象,发生在具有血栓形成倾向的患者中。它可能导致严重的并发症。血栓形成的病因被认为是多因素的,并且与获得性和遗传性因素有关。炎性肠病是血栓形成的后天原因。在炎性肠病期间,尤其是在疾病活跃期,可以看到血栓栓塞事件。在炎症性肠病中,门静脉,脾静脉和肠系膜静脉中的血栓形成并不常见。此外,已经证实与高半胱氨酸代谢有关的遗传性疾病与炎性肠病的相关性,特别是在克罗恩病中,在溃疡性结肠炎中很少。我们介绍了合并门静脉,脾和肠系膜静脉血栓形成的溃疡性结肠炎的罕见病例。该患者最近被诊断出处于非活动期的疾病。有趣的是,我们的患者也是亚甲基四氢叶酸还原酶(MTHFR)基因突变的杂合子。

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