Management of Portuguese patients with hyperplastic polyposis and screening of at-risk first-degree relatives: A contribution for future guidelines based on a clinical study
Management of Portuguese patients with hyperplastic polyposis and screening of at-risk first-degree relatives: A contribution for future guidelines based on a clinical study
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DOI：
10.1111/j.1572-0241.2004.30178.x
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发表时间：
2004-09-01
影响因子：
9.8
通讯作者：
Nobre-Leitao, C
中科院分区：
文献类型：
--
作者：
Lage, P;Cravo, M;Nobre-Leitao, C
背景技术背景：增生性息肉病（HP）是一种罕见的疾病，其特征是结肠中存在多个增生性息肉，这与结直肠癌（CRC）的风险增加有关。这种疾病的管理指南仍然是，到目前为止，undefined.AIMS：为了评估，在症状性HP患者，表型特征，以及在他们的风险一级relations.PATIENTS筛查程序的结果家系信息和临床和内镜数据的14例HP进行了研究。十七和方法：来自6个家庭的高危一级亲属也被邀请进行结肠镜筛查。结果：12/14（86%）的患者结肠息肉少于100个。息肉大小在2 ~ 25 mm之间，均匀分布于整个结肠，占43%。增生性息肉占主导地位，但11/14（79%）的患者也窝藏锯齿状以及典型的腺瘤性息肉。6/14（43%）的患者在诊断时存在CRC。6/12例（50%）病例的CRC/息肉家族史为阳性。结肠镜检查中的风险亲属披露息肉的情况下，至少有一个额外的患者有标准HP.CONCLUSIONS：虽然小，这一系列表明，需要高度怀疑诊断HP综合征，其中锯齿状腺瘤似乎是标志。尽管在这一系列有症状的HP患者中观察到CRC的百分比升高，但需要在无症状个体中进行前瞻性研究以明确量化HP患者中CRC的风险。因为HP家族聚集性存在于3/12（25%）的患者中，因此应向一级亲属提供筛查性结肠镜检查。
BACKGROUND: Hyperplastic polyposis (HP) is a rare condition characterized by the presence of multiple hyperplastic polyps in the colon, which has been associated to an increased risk of colorectal cancer (CRC). Guidelines for management of this disease remain, so far, undefined.AIMS: To evaluate, in symptomatic patients with HP, phenotypic characteristics as well as results of a screening program in their at-risk first-degree relatives.PATIENTS Pedigree information and clinical and endoscopic data of 14 patients with HP was studied. Seventeen AND METHODS: at-risk first-degree relatives from six families were also invited to perform screening colonoscopy.RESULTS: Twelve of fourteen (86%) patients had fewer than 100 colorectal polyps. Polyps' sizes ranged from 2 to 25 mm and were uniformly distributed through the whole colon in 43% of the patients. Hyperplastic polyps predominated, but 11/14 (79%) patients also harbored serrated as well as classic adenomatous polyps. CRC was present in 6/14 (43%) of the patients at the time of diagnosis. Familial history of CRC/polyps was positive in 6/12 (50%) of cases. Colonoscopy in at-risk relatives disclosed polyps in 10/17 (59%) of cases with at least one additional patient having criteria for HP.CONCLUSIONS: Although small, this series demonstrates that a high level of suspicion is needed to diagnose the HP syndrome, in which serrated adenomas seem to be the hallmark. Although an elevated percentage of CRC was observed in this series of symptomatic patients with HP, prospective studies in asymptomatic individuals are needed to clearly quantify the risk of CRC in patients with HP Because familial aggregation of HP was present in 3/12 (25%) of kindreds, screening colonoscopy should be offered to first-degree relatives.