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Angiogenesis

, Volume 22, Issue 1, pp 95–102 | Cite as

Understanding the evolving phenotype of vascular complications in telomere biology disorders

  • Cecilia Higgs
  • Yanick J. Crow
  • Denise M. Adams
  • Emmanuel Chang
  • Don HayesJr.
  • Utz Herbig
  • James N. Huang
  • Ryan Himes
  • Kunal Jajoo
  • F. Brad Johnson
  • Susan D. Reynolds
  • Yoshihiro Yonekawa
  • Mary Armanios
  • Farid Boulad
  • Courtney D. DiNardo
  • Carlo Dufour
  • Frederick D. Goldman
  • Shakila Khan
  • Christian Kratz
  • Kasiani C. Myers
  • Ganesh Raghu
  • Blanche P. Alter
  • Geraldine Aubert
  • Sonia Bhala
  • Edward W. Cowen
  • Yigal Dror
  • Mounif El-Youssef
  • Bruce Friedman
  • Neelam Giri
  • Lisa Helms Guba
  • Payal P. Khincha
  • Tiffany F. Lin
  • Hilary Longhurst
  • Lisa J. McReynolds
  • Adam Nelson
  • Tim Olson
  • Anne Pariser
  • Rosario Perona
  • Ghadir Sasa
  • Kristen Schratz
  • Douglas A. Simonetto
  • Danielle Townsley
  • Michael Walsh
  • Katherine Stevens
  • Suneet Agarwal
  • Alison A. Bertuch
  • Sharon A. SavageEmail author
  • the Clinical Care Consortium for Telomere-associated Ailments (CCCTAA)
Original Paper

Abstract

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

Telomere Dyskeratosis congenita Consortium Vascular biology 

Notes

Acknowledgements

We would like to thank all workshop participants for attending and participating in this highly informative and collaborative meeting. The workshop was funded by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute, and by Dyskeratosis Congenita Outreach, Inc., the Translational Research Program (Boston Children’s Hospital) and Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, and Texas Children’s Cancer and Hematology Centers.

Compliance with ethical standards

Conflict of interest

The authors have no conflicts of interest.

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Copyright information

© This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2018

Authors and Affiliations

  • Cecilia Higgs
    • 1
  • Yanick J. Crow
    • 2
  • Denise M. Adams
    • 3
  • Emmanuel Chang
    • 4
    • 5
  • Don HayesJr.
    • 6
    • 7
  • Utz Herbig
    • 8
  • James N. Huang
    • 9
  • Ryan Himes
    • 10
  • Kunal Jajoo
    • 11
  • F. Brad Johnson
    • 12
  • Susan D. Reynolds
    • 13
    • 14
  • Yoshihiro Yonekawa
    • 15
    • 16
  • Mary Armanios
    • 17
  • Farid Boulad
    • 18
  • Courtney D. DiNardo
    • 19
  • Carlo Dufour
    • 20
  • Frederick D. Goldman
    • 21
  • Shakila Khan
    • 22
  • Christian Kratz
    • 23
  • Kasiani C. Myers
    • 24
  • Ganesh Raghu
    • 25
  • Blanche P. Alter
    • 1
  • Geraldine Aubert
    • 26
    • 27
  • Sonia Bhala
    • 1
  • Edward W. Cowen
    • 28
  • Yigal Dror
    • 29
    • 30
    • 31
  • Mounif El-Youssef
    • 32
  • Bruce Friedman
    • 33
  • Neelam Giri
    • 1
  • Lisa Helms Guba
    • 33
  • Payal P. Khincha
    • 1
  • Tiffany F. Lin
    • 9
  • Hilary Longhurst
    • 34
  • Lisa J. McReynolds
    • 1
  • Adam Nelson
    • 24
  • Tim Olson
    • 35
  • Anne Pariser
    • 36
  • Rosario Perona
    • 37
    • 38
  • Ghadir Sasa
    • 39
  • Kristen Schratz
    • 40
  • Douglas A. Simonetto
    • 41
  • Danielle Townsley
    • 42
  • Michael Walsh
    • 18
  • Katherine Stevens
    • 33
  • Suneet Agarwal
    • 43
  • Alison A. Bertuch
    • 44
  • Sharon A. Savage
    • 1
    Email author
  • the Clinical Care Consortium for Telomere-associated Ailments (CCCTAA)
  1. 1.Clinical Genetics Branch, Division of Cancer Epidemiology and GeneticsNational Cancer InstituteBethesdaUSA
  2. 2.UKMRC Institute of Genetic and Molecular Medicine, Centre for Genomic and Experimental MedicineUniversity of EdinburghEdinburghUK
  3. 3.Division of Hematology/Oncology, Vascular Anomalies Center, Boston Children’s HospitalHarvard Medical SchoolBostonUSA
  4. 4.Retina and Vitreous of TexasHoustonUSA
  5. 5.Department of OphthalmologyBaylor College of MedicineHoustonUSA
  6. 6.Department of PediatricsThe Ohio State University College of MedicineColumbusUSA
  7. 7.Section of Pulmonary MedicineNationwide Children’s Hospital ColumbusColumbusUSA
  8. 8.Department of Microbiology, Biochemistry and Molecular Genetics, New Jersey Medical School-Cancer CenterRutgers Biomedical and Health SciencesNewarkUSA
  9. 9.Division of Pediatric Hematology/Oncology, Department of PediatricsUniversity of California, San Francisco, and UCSF Benioff Children’s HospitalSan FranciscoUSA
  10. 10.Division of Gastroenterology, Hepatology and Nutrition, Texas Children’s HospitalBaylor College of MedicineHoustonUSA
  11. 11.Division of Gastroenterology, Hepatology and Endoscopy, Brigham and Women’s HospitalHarvard Medical SchoolBostonUSA
  12. 12.Department of Pathology and Laboratory Medicine, Perelman School of MedicineUniversity of PennsylvaniaPhiladelphiaUSA
  13. 13.Department of PediatricsThe Ohio State University College of MedicineColumbusUSA
  14. 14.Center for Perinatal ResearchNationwide Children’s HospitalColumbusUSA
  15. 15.Department of Ophthalmology, Boston Children’s HospitalHarvard Medical SchoolBostonUSA
  16. 16.Retina Service, Massachusetts Eye and Ear InfirmaryHarvard Medical SchoolBostonUSA
  17. 17.Departments of Oncology, McKusick-Nathans Institute of Genetic Medicine, Sidney Kimmel Comprehensive Cancer Center and Telomere CenterJohns Hopkins University School of MedicineBaltimoreUSA
  18. 18.Department of PediatricsMemorial Sloan Kettering Cancer CenterNew YorkUSA
  19. 19.Departments of LeukemiaUniversity of Texas, MD Anderson Cancer CenterHoustonUSA
  20. 20.Hematology UnitIstituto Giannina GasliniGenoaItaly
  21. 21.Department of PediatricsUniversity of Alabama at BirminghamBirminghamUSA
  22. 22.Division of Pediatric Hematology Oncology, Department of PediatricsMayo ClinicRochesterUSA
  23. 23.Pediatric Hematology and OncologyHannover Medical SchoolHannoverGermany
  24. 24.Division of Blood and Marrow Transplantation and Immune DeficiencyCincinnati Children’s Hospital Medical CenterCincinnatiUSA
  25. 25.Center for Interstitial Lung DiseasesUniversity of WashingtonSeattleUSA
  26. 26.Terry Fox LaboratoryBC CancerVancouverCanada
  27. 27.Repeat DiagnosticsNorth VancouverCanada
  28. 28.Dermatology BranchNational Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of HealthBethesdaUSA
  29. 29.Genetics and Genome Biology ProgramThe Hospital for Sick ChildrenTorontoCanada
  30. 30.Marrow Failure and Myelodysplasia Program, Division of Hematology/Oncology, Department of PediatricsThe Hospital for Sick ChildrenTorontoCanada
  31. 31.Institute of Medical SciencesUniversity of TorontoTorontoCanada
  32. 32.Division of Pediatric Gastroenterology Hepatology and NutritionMayo ClinicRochesterUSA
  33. 33.Dyskeratosis Congenita Outreach, Inc.New YorkUSA
  34. 34.Dyskeratosis Congenita Action, London, and Addenbrooke’s HospitalCambridge University HospitalsCambridgeUK
  35. 35.Children’s Hospital of PhiladelphiaPhiladelphiaUSA
  36. 36.Office of Rare Diseases Research, National Center for Advancing Translational SciencesNational Institutes of HealthBethesdaUSA
  37. 37.Instituto de Investigaciones Biomédicas CSIC/UAMMadridSpain
  38. 38.Centro de Investigación Biomédica en Red de Enfermedades RarasMadridSpain
  39. 39.Center for Cell and Gene Therapy, Texas Children’s HospitalBaylor College of MedicineHoustonUSA
  40. 40.Departments of Pediatrics and OncologyJohns Hopkins University School of MedicineBaltimoreUSA
  41. 41.Division of Gastroenterology and HepatologyMayo ClinicRochesterUSA
  42. 42.Hematopoiesis and Bone Marrow Failure Laboratory, National Heart, Lung, and Blood InstituteNational Institutes of HealthBethesdaUSA
  43. 43.Division of Hematology/Oncology, Boston Children’s HospitalHarvard Medical SchoolBostonUSA
  44. 44.Department of Pediatrics, Hematology/Oncology, Texas Children’s HospitalBaylor College of MedicineHoustonUSA

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