The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, The Netherlands The Danish Polyposis Register, Hvidovre, Denmark.
Colorectal Dis. 1999 Jul;1(4):214-21. doi: 10.1046/j.1463-1318.1999.00050.x.
FAP is an autosomal dominant disease characterized by numerous adenomas in the colorectum. The majority of patients also develop adenomas in the duodenum. The purpose of the study was to evaluate the management and screening protocols implemented in FAP families at various polyposis registries in the world.
A questionnaire was mailed to the members of The Leeds Castle Polyposis Group requesting information on: diagnostic evaluation of polyposis, recommendations for screening and surgical management of the colon, surveillance of the upper gastrointestinal tract and the management of duodenal polyposis.
Almost all members agreed that a newly diagnosed patient should be referred to a polyposis registry and to a clinical genetics centre for genetic counselling and DNA testing. If the mutation has been detected in the family, DNA testing should be offered to first-degree relatives of patients from age 10-12 years onwards. The surveillance protocol generally advised includes sigmoidoscopy from age 10-12 years at 2-year intervals until age 40 years. There was no agreement on the preferred surgical treatment of colonic polyposis. Almost all members advised follow up after colonic surgery. Surveillance of the duodenum was recommended by most members; this would start from age 30 years. There was no agreement on the preferred surgical treatment of duodenal polyposis, or on the indication for operation.
This survey provides insight into the guidelines used at various polyposis registries for the surveillance and management of FAP patients, and this insight may contribute to the appropriate management of these patients.
家族性腺瘤性息肉病（FAP）是一种常染色体显性遗传疾病，其特征是大肠内有大量腺瘤。大多数患者的十二指肠也会出现腺瘤。本研究旨在评估世界上多个息肉病注册中心在 FAP 家族中实施的管理和筛查方案。
向利兹城堡息肉病组的成员邮寄了一份问卷，要求提供有关以下方面的信息：息肉病的诊断评估、结肠筛查和手术管理建议、上消化道监测以及十二指肠息肉病的处理。
几乎所有成员都同意，新诊断的患者应转诊至息肉病注册中心和临床遗传学中心，以进行遗传咨询和 DNA 检测。如果家族中已检测到突变，应从 10-12 岁开始向患者的一级亲属提供 DNA 检测。一般建议的监测方案包括从 10-12 岁开始每隔 2 年进行乙状结肠镜检查，直至 40 岁。对于结肠息肉病的首选手术治疗方法没有达成共识。几乎所有成员都建议在结肠手术后进行随访。大多数成员建议监测十二指肠；从 30 岁开始。对于十二指肠息肉病的首选手术治疗方法或手术指征没有达成共识。
本调查提供了对各种息肉病注册中心用于监测和管理 FAP 患者的指南的深入了解，这些见解可能有助于这些患者的适当管理。
