家族性腺瘤性息肉病96例诊治分析

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.

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

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 moderate-to-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 adenomatous 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.