家族性腺瘤性息肉病一家系三代10例患者报告并文献复习

Familial adenomatous polyposis： a report of 10 cases in 3 generations of a family and literature review

目的 探讨家族性腺瘤性息肉病（FAP）的临床特征、诊断和治疗.方法 围绕FAP先证者进行家系调查,回顾性分析FAP一家系3代共10例患者的临床特征.结果 第Ⅰ、Ⅱ代3例患者均因结直肠癌去世,生前有2例发生肠梗阻;直系第Ⅲ代共7人,年龄22 ～ 35岁,全部患有FAP,行肠镜检查均未发现癌变,其中2例有临床症状;7例第Ⅲ代患者中有1例行外科手术治疗,6例行内镜下息肉高频电切治疗.结论 FAP的早期临床表现无特异性,家系调查和对高危人群进行肠镜筛查是发现FAP早期无症状患者的重要途径.

Objective To investigate the clinical characteristic,diagnosis and treatment of familial adenomatous polyposis （FAP）.Methods According to family history of the proband,we surveyed the pedigree and retrospectively analyzed the clinical characteristics of 10 FAP patients in 3 generations of the family.Result Among all 10 cases,3 died of colorectal cancer including two of whom had history of intestinal obstruction.Seven people of the third generation were all diagnosed as FAP.Among them,only 2 patients had clinical symptoms.Colonoscopy was done in all 7 patients before 35 years old.However,none of them had polyps or evidence of cancer.Surgical operation was performed on 1 patient and high frequency electric cutting under endoscopy was performed on 6 patients.Conclusions The early clinical manifestations of FAP are nonspecific.Pedigree investigation and colonoscopy screening for high-risk population are important to find early asymptomatic FAP patients.