Kim Donghyun, Seo Eul-Ju, Song Yun Sun, Suh Chong Hyun, Kim Jong Won, Kim Dong Joon, Suh Dae Chul
Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Department of Laboraory Medicines, Asan Medical Center, University of Ulsan, Seoul, Korea.
Neurointervention. 2019 Sep;14(2):91-98. doi: 10.5469/neuroint.2019.00150. Epub 2019 Aug 28.
Hereditary hemorrhagic telangiectasia (HHT), a rare genetic vascular disorder, has been rarely reported in South Korea. We investigated the current prevalence and presenting patterns of genetically confirmed HHT in South Korea.
We defined HHT patients as those with proven mutations on known HHT-related genes (ENG, ACVRL1, SMAD4, and GDF2) or those fulfilling 3 or 4 of the Curaçao criteria. A computerized systematic search was performed in PubMed and KoreaMed using the following search term: ("hereditary hemorrhagic telangiectasia" AND "Korea") OR ("Osler-Weber-Rendu" AND "Korea"). We also collected government health insurance data. HHT genetic testing results were collected from three tertiary hospitals in which the genetic tests were performed. We integrated patient data by analyzing each case to obtain the prevalence and presenting pattern of HHT in South Korea.
We extracted 90 cases from 52 relevant articles from PubMed and KoreaMed. An additional 22 cases were identified from the three Korean tertiary hospitals after excluding seven cases that overlapped with those in the published articles. Finally, 112 HHT patients were identified (41 males and 71 females, aged 4-82 years [mean±standard deviation, 45.3±20.6 years]). The prevalence of HHT in South Korea is about 1 in 500,000, with an almost equal prevalence among men and women. Forty-nine patients underwent genetic testing, of whom 28 had HHT1 (ENG mutation) and 19 had HHT2 (ACVRL1 mutation); the other two patients were negative for ENG, ACVRL1, and SMAD4 mutations.
The prevalence of HHT is underestimated in Korea. The rate of phenotypic presentation seems to be similar to that found worldwide. Korean health insurance coverage is limited to representative genetic analysis to detect ENG and ACVRL1 mutations. Further genetic analyses to detect HHT3, HHT4, and other forms of HHT should be implemented.
遗传性出血性毛细血管扩张症（HHT）是一种罕见的遗传性血管疾病，在韩国鲜有报道。我们调查了韩国经基因确诊的HHT的当前患病率及临床表现模式。
我们将HHT患者定义为已知HHT相关基因（ENG、ACVRL1、SMAD4和GDF2）存在已证实突变的患者，或符合库拉索标准中3项或4项的患者。在PubMed和KoreaMed中使用以下检索词进行计算机系统检索：（“遗传性出血性毛细血管扩张症” AND “韩国”）OR（“奥斯勒-韦伯-伦杜综合征” AND “韩国”）。我们还收集了政府医疗保险数据。HHT基因检测结果来自进行基因检测的三家三级医院。我们通过分析每个病例来整合患者数据，以获得韩国HHT的患病率和临床表现模式。
我们从PubMed和KoreaMed的52篇相关文章中提取了90例病例。在排除7例与已发表文章中病例重叠的病例后，从韩国的三家三级医院又识别出22例病例。最终，共识别出112例HHT患者（41例男性和71例女性，年龄4 - 82岁[均值±标准差，45.3±20.6岁]）。韩国HHT的患病率约为1/500,000，男性和女性患病率几乎相等。49例患者接受了基因检测，其中28例为HHT1（ENG突变），19例为HHT2（ACVRL1突变）；另外两名患者ENG、ACVRL1和SMAD4突变均为阴性。
韩国HHT的患病率被低估。其表型表现率似乎与全球范围内的情况相似。韩国医疗保险覆盖范围仅限于检测ENG和ACVRL1突变的代表性基因分析。应开展进一步的基因分析以检测HHT3、HHT4及其他形式的HHT。
