家族性腺瘤性息肉病
医学
直肠切除术
穆提
胃肠病学
结肠切除术
内科学
结直肠癌
大肠腺瘤性息肉病
息肉切除术
直肠
结肠镜检查
癌症
普通外科
溃疡性结肠炎
种系突变
突变
生物化学
化学
疾病
基因
作者
Arthur S. Aelvoet,Francesco Buttitta,Luigi Ricciardiello,Evelien Dekker
标识
DOI:10.1016/j.bpg.2022.101793
摘要
Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) are rare inherited polyposis syndromes with a high colorectal cancer (CRC) risk. Therefore, frequent endoscopic surveillance including polypectomy of relevant premalignant lesions from a young age is warranted in patients. In FAP and less often in MAP, prophylactic colectomy is indicated followed by lifelong endoscopic surveillance of the retained rectum after (sub)total colectomy and ileal pouch after proctocolectomy to prevent CRC. No consensus is reached on the right type and timing of colectomy. As patients with FAP and MAP nowadays have an almost normal life-expectancy due to adequate treatment of colorectal polyposis, challenges in the management of FAP and MAP have shifted towards the treatment of duodenal and gastric adenomas as well as desmoid treatment in FAP. Whereas up until recently upper gastrointestinal surveillance was mostly diagnostic and patients were referred for surgery once duodenal or gastric polyposis was advanced, nowadays endoscopic treatment of premalignant lesions is widely performed. Aiming to reduce polyp burden in the colorectum as well as in the upper gastrointestinal tract, several chemopreventive agents are currently being studied.
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