Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders

J Pediatr. 2021 Mar:230:55-61.e4. doi: 10.1016/j.jpeds.2020.09.038. Epub 2020 Sep 21.


Objective: To describe the clinical features, therapeutic interventions, and patient outcomes of gastrointestinal (GI) hemorrhage in individuals with a telomere biology disorder, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Revesz syndrome, and Coats plus.

Study design: Clinical Care Consortium for Telomere Associated Ailments members were invited to contribute data on individuals with telomere biology disorders at their institutions who experienced GI bleeding. Patient demographic, laboratory, imaging, procedural, and treatment information and outcomes were extracted from the medical record.

Results: Sixteen patients who experienced GI hemorrhage were identified at 11 centers. Among 14 patients who underwent genetic testing, 8 had mutations in TINF2, 4 had mutations in CTC1 or STN1, and 1 patient each had a mutation in TERC and RTEL1. Ten patients had a history of hematopoietic cell transplantation. The patients with Coats plus and those without Coats plus had similar clinical features and courses. Angiodysplasia of the stomach and/or small bowel was described in 8 of the 12 patients who underwent endoscopy; only 4 had esophageal varices. Various medical interventions were trialed. No single intervention was uniformly associated with cessation of bleeding, although 1 patient had a sustained response to treatment with bevacizumab. Recurrence was common, and the overall long-term outcome for affected patients was poor.

Conclusions: GI bleeding in patients with telomere biology disorders is associated with significant morbidity and with vascular ectasias rather than varices.

Keywords: coats plus; dyskeratosis congenita; gastrointestinal hemorrhage; telomere biology disorder; vascular ectasia.

Publication types

  • Multicenter Study
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adolescent
  • Adult
  • Ataxia / complications
  • Ataxia / genetics
  • Bone Diseases, Metabolic / complications
  • Bone Diseases, Metabolic / genetics
  • Bone Marrow / abnormalities
  • Brain Neoplasms / complications
  • Brain Neoplasms / genetics
  • Calcinosis / complications
  • Calcinosis / genetics
  • Central Nervous System Cysts / complications
  • Central Nervous System Cysts / genetics
  • Child
  • Child, Preschool
  • Dyskeratosis Congenita / complications
  • Dyskeratosis Congenita / genetics
  • Female
  • Fetal Growth Retardation / genetics
  • Gastrointestinal Hemorrhage / etiology*
  • Gastrointestinal Hemorrhage / genetics
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics
  • Leukoencephalopathies / complications
  • Leukoencephalopathies / genetics
  • Male
  • Microcephaly / complications
  • Microcephaly / genetics
  • Muscle Spasticity / complications
  • Muscle Spasticity / genetics
  • Mutation
  • Retina
  • Retinal Diseases / complications
  • Retinal Diseases / genetics
  • Seizures / complications
  • Seizures / genetics
  • Telomere / genetics*
  • Telomere / metabolism
  • Telomere / pathology
  • Young Adult

Supplementary concepts

  • Cerebroretinal Microangiopathy with Calcifications and Cysts
  • Hoyeraal Hreidarsson syndrome
  • Revesz Debuse syndrome