Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.

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.