Division of Gastroenterology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York, USA.
Division of Gastroenterology and Hepatology, Mayo Clinic, Scottsdale, Arizona, USA.
Gastrointest Endosc. 2020 May;91(5):963-982.e2. doi: 10.1016/j.gie.2020.01.028. Epub 2020 Mar 10.
Familial adenomatous polyposis (FAP) syndrome is a complex entity, which includes FAP, attenuated FAP, and MUTYH-associated polyposis. These patients are at significant risk for colorectal cancer and carry additional risks for extracolonic malignancies. In this guideline, we reviewed the most recent literature to formulate recommendations on the role of endoscopy in this patient population. Relevant clinical questions were how to identify high-risk individuals warranting genetic testing, when to start screening examinations, what are appropriate surveillance intervals, how to identify endoscopically high-risk features, and what is the role of chemoprevention. A systematic literature search from 2005 to 2018 was performed, in addition to the inclusion of seminal historical studies. Most studies were from worldwide registries, which have compiled years of data regarding the natural history and cancer risks in this cohort. Given that most studies were retrospective, recommendations were based on epidemiologic data and expert opinion. Management of colorectal polyps in FAP has not changed much in recent years, as colectomy in FAP is the standard of care. What is new, however, is the developing body of literature on the role of endoscopy in managing upper GI and small-bowel polyposis, as patients are living longer and improved endoscopic technologies have emerged.
家族性腺瘤性息肉病(FAP)综合征是一种复杂的实体,包括 FAP、低危 FAP 和 MUTYH 相关息肉病。这些患者结直肠癌风险显著增加,并且存在其他结外恶性肿瘤的风险。在本指南中,我们回顾了最新的文献,以制定针对该患者群体内镜作用的建议。相关的临床问题是如何识别需要基因检测的高危个体,何时开始筛查检查,适当的监测间隔是多少,如何识别内镜高危特征,以及化学预防的作用是什么。除了纳入开创性的历史研究外,还进行了 2005 年至 2018 年的系统文献检索。大多数研究来自全球注册中心,这些中心汇集了多年来关于该队列的自然史和癌症风险的数据。由于大多数研究都是回顾性的,因此建议是基于流行病学数据和专家意见。近年来,FAP 中结肠息肉的管理并没有太大变化,因为 FAP 中的结肠切除术是标准的治疗方法。然而,新的是关于内镜在管理上消化道和小肠息肉中的作用的文献越来越多,因为患者的寿命延长了,并且出现了改进的内镜技术。