家族性腺瘤性息肉病患者的临床病理特点及外科治疗

Clinicopathological features and surgical treatment of familial adenomatous polyposis

目的总结家族性腺瘤性息肉病（FAP）的临床病理特点，探讨合理的诊断和治疗方案。方法回顾性分析总结了从1980年9月至2005年12月在中国协和医科大学肿瘤医院住院治疗的51例FAP患者的临床病理资料，其中男29例，女22例，年龄在17～67岁之间，平均36.6岁。结果本组51例患者中有家族史29例，可疑家族史7例，主要的临床表现为便血、腹泻、腹部疼痛或不适。首次入院时伴有同时性癌变的28例，癌变率54．9％（28／51），平均40．5岁；无癌变者23例，平均31．9岁，其中直肠和乙状结肠癌变占81．8％。全组病例除1例因直肠癌变固定无法切除行放射治疗外，其余50例均接受了不同形式的结直肠切除术。全组无手术死亡，并发症发生率8％。38例患者获得随访，随访率74．5％（38／51），随访时间6个月至25年。第1次手术后1次没复查的21例（41．2％），规律性复查的14例（27．5％）。术后8例发现残余结直肠癌变。目前全组已有17例死亡。结论FAP缺乏特异的临床表现，易癌变，对可疑病例应行结肠镜检查，确诊后应尽快治疗，手术是最主要的治疗手段，术式应根据具体病情个体化对待，术后应严密监测和随访。

Objective To investigate the clinicopathological features and surgical treatment of familial adenomatous polyposis （FAP）. Methods The clinical data of S1 patients with FAP, 29 males and 22 females, aged 36. 6 （ 17 - 67）, hospitalized Sep 1980 - Dec 2005 were analyzed. Results Twenty-nine patients had family history of FAP and 7 of them were discovered during screened because of family history. The main clinical manifestations included rectal bleeding or bloody stool, diarrhea, abdominal pain, and general discomfort in the abdomen. Synchronous malignant changes were found in 28 patients while hospitalized. The incidence of colorectal cancer was 54. 9%. The average age of those with colorectal cancer was 40. 5 and the age of those without colorectal cancer was 31.9. 81.8% of the colorectal cancers occurred on the rectum and sigmoid colon. Different types of proctocolectomy were performed on 50 patients, and one patient received only pelvic radiotherapy. The follow-up rate was 74. 5%. Only 27.5% of the patients received regular surveillance. Colorectal cancer was found in 8 patients after the first operation. So far 17 patients died. Conclusions There were no specific clinical manifestations for FAP. Colonoscopy is the most important diagnostic procedure. Surgical treatment should be given as soon as possible. The specific operation type should be based on the individual aspects of patients. Life-time surveillance and follow-up are very important.