家族性腺瘤性息肉病96例诊治分析

Diagnosis and treatment of familial adenomatous polyposis: an outcome analysis of 96 cases

目的：总结家族性腺瘤性息肉病（familial adenomatous polyposis，FAP）的临床表现特征，探讨FAP的诊治经验。方法：回顾1985～2003年96例FAP患者临床资料，分析结肠镜表现特征；回顾2001-2003年22例FAP患者上消化道内镜及腹部影像学检查资料，分析其大肠外病变特征。结果：96例FAP患者中多数患者大肠内息肉呈密生型生长（52／96，54．2％），左半结肠及直肠息肉分布密度呈中至重度，直肠腺瘤癌变率高（23／41，56．1％）。22例FAP患者中伴胃窦部增生性息肉19例，占86．3％；十二指肠各段有息肉样病灶18例，占81．8％（其中腺瘤性息肉12例，无1例癌变）。22例中有3例分别在大肠切除术后5年内发生腹壁、腹盆腔和小肠系膜硬纤维瘤，仅1例手术完整切除治愈。结论：大肠内密集分布腺瘤性息肉是FAP特征性表现，直肠腺瘤性息肉癌变率高，结肠镜是安全、有效的早期诊断方法；上消化道息肉是FAP常见大肠外病变，国人十二指肠腺瘤癌变罕见；硬纤维瘤严重影响FAP患者大肠切除术后的生存质量。

Objective：To discuss the clinical manifestations of familial adenomatous polyposis （FAP） and summarize our experience in diagnosing and treating the FAP patients. Methods： Clinical data of 96 FAP patients （1985-2003） were reviewed and colonoscopic findings were analyzed retrospectively. Abdominal CT findings and endoscopic findings of the upper digestive tract in 22 FAP patients （2001-2003） were analyzed retrospectively in an attempt to seek extrarectal pathological manifestations in FAP patients. Results.- Densely grown polyps were found in the colorectum in most patients（52/96,54.2%）, while moderateto-high density of polyps were found in the left hemicolon and rectum. Frequency of cancerization was high for rectal adenoma （23/41,56.1%）. Of the 22 FAP patients, 19 （19/22, 86.3%） had proliferative polyps of the gastric antrum and 18 （18/22, 81.8%） had duodenal polyps, including 12 duodenal adenornatous polyps, without a single case of cancerization. In 3 of the 22 FAP patients, desmoid tumors were detected in the abdominal wall, abdominopelvic cavity or mesentery of small intestine 5 years after colectomy. Of the 3 patients, only one was cured by complete resection of the tumor. Conclusion： Dense growth of polyps in the colorectum is a typical clinical manifestation of FAP. Frequency of cancerization is high for rectal adenoma. Colonoscopy is safe and effective for early diagnosis of FAP. Presence of polyps in the upper digestive tract is a common extrarectal manifestation of FAP. Cancerization of duodenal adenoma is rare in Chinese FAP patients. Desmoid tumor significantly influences postoperative quality of life of FAP patients who received prophylactic colectomy.