Mirinezhad Seyed Kazem, Mousavi Farideh, Baghri Masood, Sepehri Bita, Ghavidel Ali, Ghojazadeh Morteza, Somi Mohammad Hossein
Liver and Gastrointestinal Diseases Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. Email:
Asian Pac J Cancer Prev. 2018 Jan 27;19(1):167-169. doi: 10.22034/APJCP.2018.19.1.167.
Objective: Familial adenomatous polyposis (FAP), an autosomal dominant inherited disorder is characterized by the presence of multiple adenomatous colorectal polyps, which can develop into cancer during early adulthood. Therefore, early diagnosis is essential. Most FAP patients have several extracolonic manifestations, including congenital hypertrophy of the retinal pigment epithelium (CHRPE). Whereas genetic markers may provide the main route to detection of ‘‘at risk’’ subjects , at present this approach is clearly limited and searches for a noninvasive phenotypic marker continue to be high priority.The aim of this study was to describe the pattern of distribution of CHRPE lesions and evaluate their diagnostic value in FAP patients and their family members in a local population. Methods: A total of 23 FAP patients and 26 relatives belonging to 12 families at high risk of developing FAP were subjected to colonoscopic and ophthalmological examination. Result: Retinal examinations demonstrated prevalences of CHRPE in FAP patents and their siblings of 78% and 38%, respectively. We were able to illustrate a significant correlation between FAP disease and the presence of retinal lesions. Sensitivity and specificity of CHRPE as a screening test to detect the presence of FAP are 78.3% and 61.5%, respectively, with a positive predictive value of 64.3% and a negative predictive value of 76.2 %. A “lesion form” significant difference was found between FAP and normal participants.Spearman nonparametric analysis revealed no correlation between age and number or size of lesions. Conclusion: Multiple CHRPE lesions are a diagnostic feature of FAP patients They are specific and sensitive clinical markers of this disease (specificity 60% and sensitivity 77%).
家族性腺瘤性息肉病（FAP）是一种常染色体显性遗传性疾病，其特征是存在多个结直肠腺瘤性息肉，这些息肉在成年早期可能发展为癌症。因此，早期诊断至关重要。大多数FAP患者有几种结肠外表现，包括视网膜色素上皮先天性肥大（CHRPE）。虽然基因标记可能是检测“高危”人群的主要途径，但目前这种方法显然有限，寻找非侵入性表型标记仍然是当务之急。本研究的目的是描述CHRPE病变的分布模式，并评估其在当地人群中FAP患者及其家庭成员中的诊断价值。方法：对12个有FAP发病高风险家庭的23例FAP患者和26名亲属进行结肠镜检查和眼科检查。结果：视网膜检查显示，FAP患者及其兄弟姐妹中CHRPE的患病率分别为78%和38%。我们能够说明FAP疾病与视网膜病变的存在之间存在显著相关性。CHRPE作为检测FAP存在的筛查试验，其敏感性和特异性分别为78.3%和61.5%，阳性预测值为64.3%，阴性预测值为76.2%。在FAP患者和正常参与者之间发现了“病变形式”的显著差异。Spearman非参数分析显示年龄与病变数量或大小之间无相关性。结论：多个CHRPE病变是FAP患者的诊断特征。它们是这种疾病的特异性和敏感性临床标记（特异性60%，敏感性77%）。
