Understanding the evolving phenotype of vascular complications in telomere biology disorders

Clinical Care Consortium for Telomere-associated Ailments (CCCTAA)

Research output: Contribution to journalArticle


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.

Original languageEnglish
Pages (from-to)95-102
Number of pages8
Issue number1
Publication statusPublished - Feb 2019

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