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炎症性肠病:是否需要筛查易栓症?

Inflammatory Bowel Disease: An Indication to Screen for Thrombophilia?

作者信息

Moukalled Nour M, Hashash Jana G, Taher Ali T

机构信息

Division of Hematology and Oncology, Department of Internal Medicine, Naef K. Basile Cancer Institute, American University of Beirut Medical Center, P.O. Box 11-0236, Riad El Solh, Beirut 1107 2020, Lebanon.

Department of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, FL 32224, USA.

出版信息

Diseases. 2022 Feb 23;10(1):14. doi: 10.3390/diseases10010014.

DOI:10.3390/diseases10010014
PMID:35323181
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8947449/
Abstract

Inflammatory bowel diseases (IBD) are systemic conditions characterized by multiple intestinal and extra-intestinal manifestations related to the associated chronic inflammatory state. Among their diverse extra-intestinal complications, venous thromboembolism (VTE) remains one of the most under recognized causes of morbidity and mortality in these patients, highlighting the need for a better understanding of the underlying mechanism of hypercoagulability, in addition to the role of acquired and inherited risk factors that further increase the risk of thrombosis with its impact on patients' outcomes. We hereby present a review of the data regarding thrombosis in the setting of IBD, elucidating the possible role for screening in this high-risk category of patients and specifically in areas where inherited thrombophilia is expected to be highly prevalent, reporting two patients with IBD, one who developed a cerebrovascular event and another one who had recurrent VTE events; nevertheless, both of them had inherited thrombophilic mutations. The identification of specific genetic abnormalities in those patients reintroduces the controversy related to the need to screen a specific category of patients with IBD for hereditary thrombophilia, especially in regions characterized by a higher prevalence of such thrombophilic alterations.

摘要

炎症性肠病(IBD)是一种全身性疾病,其特征是与相关慢性炎症状态有关的多种肠道和肠道外表现。在其多样的肠道外并发症中,静脉血栓栓塞(VTE)仍然是这些患者发病和死亡的最未被充分认识的原因之一,这突出表明除了获得性和遗传性风险因素的作用外,还需要更好地了解高凝状态的潜在机制,这些因素会进一步增加血栓形成的风险及其对患者预后的影响。我们在此对IBD患者血栓形成的数据进行综述,阐明在这一高危患者类别中进行筛查的可能作用,特别是在预计遗传性易栓症高度流行的地区,并报告两名IBD患者,一名发生了脑血管事件,另一名发生了复发性VTE事件;然而,他们两人都有遗传性易栓症突变。在这些患者中发现特定的基因异常再次引发了关于是否需要对特定类别的IBD患者进行遗传性易栓症筛查的争议,特别是在这种易栓症改变患病率较高的地区。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3c0/8947449/197ff7c25085/diseases-10-00014-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3c0/8947449/07f652cbda0d/diseases-10-00014-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3c0/8947449/6295dc27e7ea/diseases-10-00014-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3c0/8947449/197ff7c25085/diseases-10-00014-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3c0/8947449/07f652cbda0d/diseases-10-00014-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3c0/8947449/6295dc27e7ea/diseases-10-00014-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3c0/8947449/197ff7c25085/diseases-10-00014-g003.jpg

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本文引用的文献

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Inherited Thrombophilia in the Era of Direct Oral Anticoagulants.直接口服抗凝剂时代的遗传性血栓形成倾向。
Int J Mol Sci. 2022 Feb 5;23(3):1821. doi: 10.3390/ijms23031821.
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Thrombophilia Testing and Venous Thrombosis.血栓形成倾向检测与静脉血栓形成
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PROS1 genotype phenotype relationships in a large cohort of adults with suspicion of inherited quantitative protein S deficiency.PROS1 基因型表型关系在一大群怀疑遗传性定量蛋白 S 缺乏的成年人中。
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Prevention and treatment of venous thromboembolism in patients with IBD: a trail still climbing.炎症性肠病患者静脉血栓栓塞的预防与治疗:仍在攀登的征程
Inflamm Bowel Dis. 2015 May;21(5):1204-13. doi: 10.1097/MIB.0000000000000310.
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Venous thromboembolism in patients with inflammatory bowel diseases: a case-control study of risk factors.炎症性肠病患者的静脉血栓栓塞:一项危险因素的病例对照研究
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