The Prevalence of Hereditary Hemorrhagic Telangiectasia in Juvenile Polyposis Syndrome
The Prevalence of Hereditary Hemorrhagic Telangiectasia in Juvenile Polyposis Syndrome
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DOI：
10.1097/dcr.0b013e31825aad32
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发表时间：
2012-08-01
影响因子：
3.9
通讯作者：
Burke, Carol A.
中科院分区：
文献类型：
--
作者：
O'Malley, Margaret;LaGuardia, Lisa;Burke, Carol A.
背景：少年型息肉综合征是一种显性胃肠道息肉综合征，定义为>= 5个少年型息肉或>= 1个有少年型息肉家族史的少年型息肉。在50%的个体中发现BMPR1A或SMAD4突变。遗传性出血性毛细血管扩张是一种以鼻出血、内脏动静脉畸形和毛细血管扩张为特征的显性疾病。遗传性出血性毛细血管扩张症的诊断标准为>= 3，包括临床表现或家族史。少年型息肉病-遗传性出血性毛细血管扩张重叠综合征在22%的由SMAD4突变引起的少年型息肉病患者中有报道。目的：我们的目的是通过库拉索标准确定我们的青少年息肉病SMAD4患者的遗传性出血性毛细血管扩张的患病率和临床表现。设计、患者和环境：这是一项对我们的遗传性结肠癌登记处的青少年息肉病患者的队列研究。遗传性出血性毛细血管扩张的表现来自医疗记录、患者接触和/或前瞻性遗传性出血性毛细血管扩张筛查。采用Curacao标准诊断遗传性出血性毛细血管扩张（>= 3标准诊断；2标准疑似）。主要观察指标：遗传性出血性毛细血管扩张在少年型息肉病SMAD4患者中的患病率和临床表现。结果：共鉴定出41个青少年息肉病家族。对18个家庭中的个人进行了基因检测。在9个家族的21个亲属中发现SMAD4突变。81%的SMAD4患者有遗传性出血性毛细血管扩张，14%怀疑有遗传性出血性毛细血管扩张。鼻出血和哮喘是我们重叠患者最常见的症状。症状性和亚临床动静脉畸形几乎是普遍存在的。局限性：只有一个单一的三级转诊中心。结论：几乎所有少年型息肉病SMAD4患者均存在重叠综合征。临床意义和需要遗传性出血性毛细血管扩张筛查是重要的因素，基因检测的青少年息肉病。卫生保健提供者必须认识到青少年息肉病-遗传性出血性毛细血管扩张重叠综合征及其对这些患者管理的影响。
BACKGROUND: Juvenile polyposis syndrome is a dominant GI polyposis syndrome defined by >= 5 GI juvenile polyps or >= 1 juvenile polyps with a family history of juvenile polyposis. Mutations in BMPR1A or SMAD4 are found in 50% of individuals. Hereditary hemorrhagic telangiectasia is a dominant disorder characterized by epistaxis, visceral arteriovenous malformations, and telangiectasias. Hereditary hemorrhagic telangiectasia is diagnosed when >= 3 criteria including clinical manifestations or a family history, are present. A juvenile polyposis-hereditary hemorrhagic telangiectasia overlap syndrome has previously been reported in 22% of patients with juvenile polyposis due to a SMAD4 mutation.OBJECTIVE: Our objective was to determine the prevalence and clinical manifestations of hereditary hemorrhagic telangiectasia by Curacao criteria in our juvenile polyposis SMAD4 patients.DESIGN, PATIENTS, AND SETTING: This was a cohort study of juvenile polyposis patients in our inherited colon cancer registries. Hereditary hemorrhagic telangiectasia manifestations were obtained from medical records, patient contact, and/or prospective hereditary hemorrhagic telangiectasia screening. The Curacao criteria was used for diagnosis of hereditary hemorrhagic telangiectasia (>= 3 criteria diagnostic; 2 criteria suspect of).MAIN OUTCOME MEASURES: Prevalence and clinical manifestations of hereditary hemorrhagic telangiectasia in juvenile polyposis SMAD4 patients.RESULTS: Forty-one juvenile polyposis families were identified. Genetic testing was available for individuals within 18 families. SMAD4 mutations were found in 21 relatives in 9 families. Eighty-one percent of SMAD4 patients had hereditary hemorrhagic telangiectasia and 14% were suspected of having hereditary hemorrhagic telangiectasia. Epistaxis and asthma are the most common symptoms in our overlap patients. Symptomatic and subclinical arteriovenous malformations were noted near universally.LIMITATIONS: There was a single, tertiary referral center.CONCLUSIONS: Nearly all juvenile polyposis SMAD4 patients have the overlap syndrome. The clinical implications and need for hereditary hemorrhagic telangiectasia screening are important factors for genetic testing in juvenile polyposis. Health care providers must be cognizant of the juvenile polyposis-hereditary hemorrhagic telangiectasia overlap syndrome and the implications for management of these patients.