Steinberger Allie E, Westfal Maggie L, Wise Paul E
Section of Colon and Rectal Surgery, Department of Surgery, Washington University in St. Louis School of Medicine, St. Louis, Missouri.
Clin Colon Rectal Surg. 2023 Aug 10;37(3):191-197. doi: 10.1055/s-0043-1770732. eCollection 2024 May.
Familial adenomatous polyposis (FAP) is an autosomal dominant disorder affecting patients with germline mutations of the adenomatous polyposis coli (APC) tumor suppressor gene. The surgical treatment of colorectal disease in FAP, which has the goal of colorectal cancer prevention, varies based on both patient and disease factors but can include the following: total colectomy with ileorectal anastomosis, proctocolectomy with stapled or hand-sewn ileal pouch-anal anastomosis, or total proctocolectomy with end ileostomy. The operative options and extent of resection, as well as the use of endoscopy and chemoprevention for the management of polyposis, will be discussed in detail in this article. In addition, commonly debated management decisions related to the treatment of patients with FAP, including the timing of prophylactic colorectal resections for patients with FAP and management of the polyp burden in the rectum, will be discussed. Finally, genotype considerations and the impact of desmoid disease on operative decisions in the setting of FAP will also be reviewed.
家族性腺瘤性息肉病（FAP）是一种常染色体显性疾病，影响携带腺瘤性息肉病基因（APC）肿瘤抑制基因种系突变的患者。FAP患者结直肠疾病的外科治疗旨在预防结直肠癌，其治疗方法因患者和疾病因素而异，可包括以下几种：全结肠切除术加回肠直肠吻合术、直肠结肠切除术加吻合器或手工缝合的回肠储袋肛管吻合术、或全直肠结肠切除术加末端回肠造口术。本文将详细讨论手术选择、切除范围，以及在内镜检查和化学预防在息肉病管理中的应用。此外，还将讨论与FAP患者治疗相关的常见争议管理决策，包括FAP患者预防性结直肠切除术的时机以及直肠息肉负荷的管理。最后，还将回顾基因型考量以及硬纤维瘤病对FAP手术决策的影响。
