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Abstract：
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.
摘要：
家族性腺瘤性息肉病（FAP）是一种常染色体显性遗传病，可影响腺瘤性息肉病（APC）抑癌基因的种系突变患者。结直肠疾病FAP的外科治疗,其目标是预防结肠直肠癌，根据患者和疾病因素而变化，但可能包括以下内容：全结肠切除术与回肠直肠吻合术，直肠结肠切除术，用钉或手工缝制回肠袋-肛门吻合术，或全直肠结肠切除术与末端回肠造口术。手术选择和切除程度，以及使用内窥镜检查和化学预防治疗息肉病，将在本文中详细讨论。此外,与FAP患者治疗相关的管理决定通常有争议，包括FAP患者预防性结肠直肠切除的时机和直肠息肉负担的管理，将讨论。最后,我们还将回顾FAP设置中的基因型考虑因素以及韧带样病变对手术决策的影响。
