Konsker K A
Mount Sinai School of Medicine (CUNY), NY 10029.
Mt Sinai J Med. 1992 Jan;59(1):85-91.
FAP, if left untreated, results in colorectal cancer. Appropriate early surgical intervention is of utmost importance. With the reduction in mortality from colorectal carcinoma, an increasing number of patients with FAP need lifelong follow-up to screen for extracolonic manifestations. Today, the major causes of death in patients with FAP who are cured of colorectal cancer, or have had a colectomy before its development, are desmoid tumors and periampullary carcinomas. In family members at risk, screening with flexible sigmoidoscopy should be initiated in adolescence; symptoms of diarrhea and rectal bleeding would warrant an even earlier examination. The upper gastrointestinal tract should be assessed endoscopically at the time the diagnosis of FAP is made. If any polyps are detected, a biopsy is essential. If no gastric or duodenal polyps are found, repeated examinations at 3-5 year intervals probably suffice in asymptomatic patients. Surgically, colectomy will be necessary. It is usually deferred until late adolescence, when it is thought that the patient will be mature enough to handle the emotional aspects of the operation as well as the possible future morbidity due to the procedure. The presence or absence of rectal polyps as well as the site and depth of any invasive rectal carcinoma will determine the appropriate surgical procedure. Alternatives must be well understood by the physician and discussed carefully with the patient preoperatively.
家族性腺瘤性息肉病（FAP）若不治疗，会导致结直肠癌。早期进行适当的手术干预至关重要。随着结直肠癌死亡率的降低，越来越多的FAP患者需要终身随访，以筛查肠外表现。如今，已治愈结直肠癌或在结直肠癌发生前已行结肠切除术的FAP患者的主要死因是硬纤维瘤和壶腹周围癌。对于有风险的家庭成员，应在青春期开始用乙状结肠镜进行筛查；腹泻和直肠出血症状则需要更早进行检查。在诊断FAP时，应通过内镜检查评估上消化道。如果发现任何息肉，活检必不可少。如果未发现胃或十二指肠息肉，无症状患者每3 - 5年进行重复检查可能就足够了。在手术方面，结肠切除术是必要的。通常会推迟到青春期后期，因为那时认为患者已足够成熟，能够应对手术带来的情绪问题以及该手术可能导致的未来发病情况。直肠息肉的有无以及任何浸润性直肠癌的部位和深度将决定合适的手术方式。医生必须充分了解各种替代方案，并在术前与患者仔细讨论。
