Dalpatadu K U A, Anwar N, Wijesuriya S R E, Kumarage S K, Amarasinghe B, Deen K I
Department of Surgery, University of Kelaniya, Sri Lanka.
Ceylon Med J. 2011 Jun;56(2):66-9. doi: 10.4038/cmj.v56i2.3112.
To improve the prognosis of patients with familial adenomatous polyposis (FAP) by early diagnosis and prophylactic treatment through a coordinated FAP register.
The establishment and descriptive analysis of the prospective database of the FAP registry.
University surgical unit, Colombo North Teaching Hospital Ragama, Sri Lanka.
Probands were identified by tracing all diagnosed FAP patients from 1996 to 2010 and their family members at risk.
The establishment of a polyposis register included the following stages: ascertainment of probands (first contact symptomatic FAP patients), construction of pedigrees, counselling relatives and prophylactic screening of family members at risk, treatment and follow up.
Twenty seven enrolled probands (12 male and 15 female, age 11-52 years, median age 34 years) were investigated. Pedigree analyses showed 206 relatives at risk. Twenty four family members at risk were screened of a total of 51 registered individuals. The rate of spontaneous mutations was 41%. Thirty five were diagnosed with FAP. Eight were screen detected (median age - 32 years) and 27 symptomatic (median age - 34 years). Concomitant colorectal cancer was detected in 17 (63%) symptomatic individuals and in 1 (13%) screen detected individual. Colectomy was performed in 27 (77%) patients while 8 (23%) are on chemoprophylaxis. Congenital hypertrophic retinal pigment epithelium was detected in 15. Desmoids tumours (6%) and other extraintestinal manifestations including osteomas, sebacious cysts and dental abnormalities (34%) were also detected. A thyroid gland malignancy was screen detected while retinoblastoma, hepatoblastoma and cerebral tumours were seen in pedigrees.
A polyposis register may improve prognosis of FAP by early detection. It will help coordinate, optimise and streamline clinical management of patients with FAP and their relatives at risk.
通过协调的家族性腺瘤性息肉病（FAP）登记系统进行早期诊断和预防性治疗，以改善FAP患者的预后。
FAP登记系统前瞻性数据库的建立及描述性分析。
斯里兰卡科伦坡北部拉加马教学医院大学外科病房。
通过追踪1996年至2010年所有确诊的FAP患者及其有风险的家庭成员来确定先证者。
息肉病登记系统的建立包括以下阶段：确定先证者（首次接触有症状的FAP患者）、构建家系、为亲属提供咨询以及对有风险的家庭成员进行预防性筛查、治疗和随访。
对27名登记的先证者（12名男性和15名女性，年龄11 - 52岁，中位年龄34岁）进行了调查。家系分析显示有206名有风险的亲属。在总共51名登记个体中，对24名有风险的家庭成员进行了筛查。自发突变率为41%。35人被诊断为FAP。8人通过筛查发现（中位年龄 - 32岁），27人有症状（中位年龄 - 34岁）。在17名（63%）有症状的个体和1名（13%）筛查发现的个体中检测到同时存在结直肠癌。27名（77%）患者接受了结肠切除术，而8名（23%）患者接受化学预防。15名患者检测到先天性肥厚性视网膜色素上皮。还检测到硬纤维瘤（6%）和其他肠外表现，包括骨瘤、皮脂腺囊肿和牙齿异常（34%）。筛查发现1例甲状腺恶性肿瘤，在家系中发现视网膜母细胞瘤、肝母细胞瘤和脑肿瘤。
息肉病登记系统可能通过早期检测改善FAP的预后。它将有助于协调、优化和简化FAP患者及其有风险亲属的临床管理。
