Daca-Álvarez Maria, Latchford Andrew, Pellisé Maria, Balaguer Francesc
Department of Gastroenterology, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Hospital Clinic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Polyposis Registry, St Mark's Hospital, Harrow, UK.
Fam Cancer. 2025 Jun 1;24(2):53. doi: 10.1007/s10689-025-00480-w.
Familial adenomatous polyposis (FAP) is a hereditary disorder caused by constitutional pathogenic variants in the APC gene, leading to the development of up to hundreds of colorectal adenomas and a near-inevitable risk of colorectal cancer (CRC) if untreated. Traditional management relies on prophylactic colectomy, but advances in endoscopic techniques and chemoprevention offer alternative strategies to delay or even avoid surgery. This review explores the role of endoscopic surveillance, polypectomy strategies, and chemopreventive agents in FAP management, evaluating their efficacy, limitations, and the need for personalized approaches.
家族性腺瘤性息肉病（FAP）是一种遗传性疾病，由APC基因的胚系致病性变异引起，如果不治疗，会导致多达数百个结肠直肠腺瘤的发生以及几乎不可避免的患结直肠癌（CRC）风险。传统治疗依赖于预防性结肠切除术，但内镜技术和化学预防的进展提供了延迟甚至避免手术的替代策略。本综述探讨了内镜监测、息肉切除术策略和化学预防药物在FAP管理中的作用，评估了它们的疗效、局限性以及个性化方法的必要性。
