家族性腺瘤性息肉病的临床特征分析

Clinical characteristics of familial adenomatous polyposis

目的 探究家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)临床特征。方法 回顾分析郑州大学第一附属医院2011年1月至2021年12月100例被确诊为家族性腺瘤性息肉病患者的临床资料。结果 患者主要临床表现依次为血便(44.0%),腹痛(40.0%),大便性状改变(25.0%),腹胀(18.0%)和腹泻(17.0%)等;腺瘤类型以绒毛管状腺瘤(44.9%)和管状腺瘤(32.1%)为主;肠外表现包括硬纤维瘤3例,骨瘤2例,脂肪瘤1例;伴发胃息肉47例,病理类型多为胃底腺息肉(34.0%);伴发十二指肠息肉18例,十二指肠降部多发(61.1%);21例患者发生癌变,癌变中位年龄为39.6岁,直肠部位多发;将癌变与未癌变患者性别、有无家族史、发病年龄、腺瘤数目、腺瘤直径和腺瘤病理类型进行统计学比较,发现两组患者的性别、平均发病年龄、不同年龄阶段、腺瘤数目、腺瘤直径和腺瘤病理类型差异有统计学意义(P<0.05)。结论 家族性腺瘤性息肉病主要表现为血便及腹痛等,癌变率高,危险因素包括患者发病年龄、腺瘤数目直径及病理类型。病理类型以绒毛管状腺瘤和管状腺瘤为主。目前预防性结直肠切除术仍是治疗FAP最有效的方式;无论患者选择何种术式,均需严格内镜下随访。

Objective To investigate the clinical manifestations of familial adenomatous polyposis(FAP).Methods The clinical data of 100 patients with FAP diagnosed in the First Affiliated Hospital of Zhengzhou University from 2011 to 2021 were analyzed retrospectively.Results The main clinical manifestations were bloody stool(44.0%),abdominal pain(40.0%),changes of stool characteristics(25.0%),abdominal distension(18.0%)and diarrhea(17.0%);The most common types of adenomas were villous tubular adenoma(44.9%)and tubular adenoma(32.1%);Extraintestinal manifestations:3 cases of desmoid fibroma,2 cases of osteoma and 1 case of lipoma.47 cases of gastric polyps and the mostly pathological type was fundic gland polyp(34.0%).18 cases of duodenal polyps including 6 cases of adenomatous polyps and most were located at descending duodenum(61.1%).Adenoma canceration occurred in 21 patients.The average age was 38.7 and the canceration mainly occurs in the rectum.The gender,family history,age of onset,number of adenomas,diameter and pathological type of adenomas were statistically compared between patients with and without canceration.It was found that there were significant differences in gender,average age of onset,number of adenoma polyps,diameter of adenoma and pathological type between the two groups(P<0.05).Conclusions FAP is mainly characterized by bloody stool and abdominal pain,with high canceration rate.The risk factors include the age of onset,the number and size of adenomas and the pathological type.The main pathological types are villous tubular adenoma and tubular adenoma.At present,preventive colorectal resection is still the most effective way to treat FAP.No matter what type of methods patients choose,they should be followed up strictly under endoscopy in order to find the lesions in time and treat if necessary.