Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders

Ryan W Himes, Eric H Chiou, Karen Queliza, Dror S Shouval, Raz Somech, Suneet Agarwal, Kunal Jajoo, David S Ziegler, Christian P Kratz, James Huang, Tiffany L Lucas, Kasiani C Myers, Adam S Nelson, Courtney D DiNardo, Blanche P Alter, Neelam Giri, Payal P Khincha, Lisa J McReynolds, Carlo Dufour, Filomena Pierri, Frederick D Goldman, Youmna Sherif, Sharon A Savage, Tamir Miloh, Alison A Bertuch
Journal of Pediatrics 2020 September 21

OBJECTIVE: To describe the clinical features, therapeutic interventions, and patient outcomes of GI hemorrhage in individuals with telomere biology disorders which include 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 TBDs 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 had genetic testing, 8 had mutations in TINF2, 4 in CTC1 or STN1, and 1 each in TERC and RTEL1. Ten had a history of hematopoietic cell transplantation. The Coats plus and non-Coats plus patients 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. A variety of medical interventions were trialed. No single intervention was uniformly associated with cessation of bleeding, although one 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 TBDs is associated with significant morbidity and is associated with vascular ectasias rather than varices.

Full Text Links

We have located links that may give you full text access.


You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read

Save your favorite articles in one place with a free QxMD account.


Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"