Understanding the evolving phenotype of vascular complications in telomere biology disorders

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.

Keywords: Consortium; Dyskeratosis congenita; Telomere; Vascular biology.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Arteriovenous Fistula* / genetics
  • Arteriovenous Fistula* / metabolism
  • Arteriovenous Fistula* / pathology
  • Education
  • Humans
  • Pulmonary Artery / abnormalities*
  • Pulmonary Artery / metabolism
  • Pulmonary Artery / pathology
  • Pulmonary Veins / abnormalities*
  • Pulmonary Veins / metabolism
  • Pulmonary Veins / pathology
  • Telangiectasis* / genetics
  • Telangiectasis* / metabolism
  • Telangiectasis* / pathology
  • Telomere* / genetics
  • Telomere* / metabolism
  • Telomere* / pathology

Supplementary concepts

  • Pulmonary Arteriovenous Fistulas