Knudsen Anne Lyster, Bisgaard Marie Luise, Bülow Steffen
The Danish Polyposis Register, Department of Surgical Gastroenterology, Hvidovre University Hospital, Hvidovre, Denmark.
Fam Cancer. 2003;2(1):43-55. doi: 10.1023/a:1023286520725.
Over the last decade, a subset of familial adenomatous polyposis (FAP) patients with a milder course of disease termed attenuated familial adenomatous polyposis (AFAP) has been described. AFAP is not well-defined as a disease entity - the reports on AFAP are largely casuistic or only deal with a few kindreds--and the diagnostic criteria and methods of investigation differ markedly. The true incidence and frequency of AFAP is not known. The mutations in APC associated with AFAP have mainly been detected in three parts of the gene: in the 5' end (the first five exons), in exon 9 and in the distal 3' end. The main features of AFAP are 100 or less colorectal adenomas with a tendency to rectal sparing, a delay in onset of adenomatosis and bowel symptoms of 20-25 years, a delay in onset of colorectal cancer (CRC) of 10-20 years and death from CRC of 15-20 years, and although the lifetime penetrance of CRC appears to be high, CRC does not seem to develop in nearly all affected patients. A more limited expression of the extracolonic features is seen, but gastric and duodenal adenomas are frequently encountered. Colonoscopy is preferred to sigmoidoscopy, should begin at the age of 20-25 years and no upper age limit of stopping surveillance is justified. Regular esophago-gastro- duodenoscopy (EGD) is recommended. Until further research has provided us with a more substantiated knowledge about AFAP changes in current surveillance and treatment are not recommended. Prophylactic colectomy with ileorectal anastomosis (IRA) is recommended in most patients.
在过去十年中,已经描述了一部分家族性腺瘤性息肉病(FAP)患者,其疾病进程较为温和,称为attenuated familial adenomatous polyposis(AFAP,弱化型家族性腺瘤性息肉病)。AFAP作为一种疾病实体尚未得到明确界定——关于AFAP的报道大多是个别病例或仅涉及少数家族——并且诊断标准和调查方法差异很大。AFAP的真实发病率和频率尚不清楚。与AFAP相关的APC基因突变主要在基因的三个部分被检测到:5'端(前五个外显子)、外显子9和3'端远端。AFAP的主要特征包括:结直肠腺瘤100个或更少,有直肠不累及的倾向,腺瘤病和肠道症状的发病延迟20 - 25年,结直肠癌(CRC)的发病延迟10 - 20年,死于CRC的时间为15 - 20年,尽管CRC的终生发病风险似乎很高,但几乎并非所有受影响的患者都会发生CRC。肠外特征的表现更为有限,但胃和十二指肠腺瘤较为常见。结肠镜检查优于乙状结肠镜检查,应在20 - 25岁开始,且没有合理的停止监测的上限年龄。建议定期进行食管胃十二指肠镜检查(EGD)。在进一步研究为我们提供关于AFAP更确凿的知识之前,不建议改变当前的监测和治疗方法。大多数患者建议行预防性结肠切除术加回肠直肠吻合术(IRA)。