Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, 6E456, Bethesda, MD, 20892-6772, USA.
UKMRC Institute of Genetic and Molecular Medicine, Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh, UK.
Angiogenesis. 2019 Feb;22(1):95-102. doi: 10.1007/s10456-018-9640-7. Epub 2018 Aug 25.
Vascular complications such as bleeding due to gastrointestinal telangiectatic anomalies, pulmonary arteriovenous malformations, hepatopulmonary syndrome, and retinal vessel abnormalities are being reported in patients with telomere biology disorders (TBDs) more frequently than previously described. The international clinical care consortium of telomere-associated ailments and family support group Dyskeratosis Congenita Outreach, Inc. held a workshop on vascular abnormalities in the TBDs at the National Cancer Institute in October 2017. Clinicians and basic scientists reviewed current data on vascular complications, hypotheses for the underlying biology and developed new collaborations to address the etiology and clinical management of vascular complications in TBDs.
血管并发症，如胃肠道毛细血管扩张性异常引起的出血、肺动静脉畸形、肝肺综合征和视网膜血管异常，在端粒生物学疾病（TBD）患者中的报告频率比以前描述的要高。端粒相关疾病国际临床护理联盟和先天性角化不良家庭支持团体 Dyskeratosis Congenita Outreach, Inc. 于 2017 年 10 月在国家癌症研究所举办了一次关于 TBD 血管异常的研讨会。临床医生和基础科学家回顾了血管并发症的现有数据、潜在生物学假说，并建立了新的合作关系，以解决 TBD 血管并发症的病因和临床管理问题。
