Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders - 22/02/21

Doi : 10.1016/j.jpeds.2020.09.038

Ryan W. Himes, MD ^1,^2,^⁎ , Eric H. Chiou, MD ¹, Karen Queliza, MD ^1,³, Dror S. Shouval, MD ^4,⁵, Raz Somech, MD ⁴, Suneet Agarwal, MD, PhD ⁶, Kunal Jajoo, MD ⁷, David S. Ziegler, MBBS, MD ⁸, Christian P. Kratz, MD ⁹, James Huang, MD ¹⁰, Tiffany L. Lucas, MD ¹⁰, Kasiani C. Myers, MD ¹¹, Adam S. Nelson, MBBS, FRACP ¹¹, Courtney D. DiNardo, MD ¹², Blanche P. Alter, MD, MPH ¹³, Neelam Giri, MD ¹³, Payal P. Khincha, MD ¹³, Lisa J. McReynolds, MD, PhD ¹³, Carlo Dufour, MD ¹⁴, Filomena Pierri, MD ¹⁴, Frederick D. Goldman, MD ¹⁵, Youmna Sherif, MD ¹⁶, Sharon A. Savage, MD ¹³, Tamir Miloh, MD ^1,¹⁷, Alison A. Bertuch, MD, PhD ¹⁸
¹ Department of Pediatric Gastroenterology, Hepatology and Nutrition, Baylor College of Medicine and Texas Children's Hospital, Houston, TX
² Section of Gastroenterology and Hepatology, Department of Pediatrics, Ochsner Health, New Orleans, LA
³ Gastroenterology, Hepatology and Nutrition Service, Memorial Sloan Kettering Cancer Center, New York, NY
⁴ Pediatric Gastroenterology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel
⁵ Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
⁶ Boston Children's Hospital, Dana-Farber Cancer Institute, and Harvard Medical School, Boston, MA
⁷ Brigham and Women's Hospital and Harvard Medical School, Boston, MA
⁸ Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia
⁹ Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany
¹⁰ Division of Hematology/Oncology, Department of Pediatrics, UCSF Benioff Children's Hospital, University of California, San Francisco, CA
¹¹ Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
¹² MD Anderson Cancer Center, Houston, TX
¹³ Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD
¹⁴ Hemato-Oncology-Stem Cell Transplant Pole, IRCCS Giannina Gaslini, Genoa, Italy
¹⁵ Department of Pediatrics, University of Alabama-Birmingham, Birmingham, AL
¹⁶ Department of Surgery, Baylor College of Medicine and Texas Children's Hospital, Houston, TX
¹⁷ Miami Transplant Institute, University of Miami, Miami, FL
¹⁸ Section of Hematology/Oncology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX

^∗Reprint requests: Ryan W. Himes, MD, Ochsner Health, 1315 Jefferson Hwy, New Orleans, LA 70121.Ochsner Health1315 Jefferson HwyNew OrleansLA70121

Abstract

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.

Le texte complet de cet article est disponible en PDF.

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

Abbreviations : APC, CCCTAA, GI, HCT, PRBC, RFA

Plan

Methods

Results

Demographics and Clinical Characteristics

Clinical Features and Treatment of the Initial GI Hemorrhage

Features of Liver Disease

Recurrence of GI Hemorrhage

Long-Term Outcomes

Discussion

Data Statement

B.A., N.G., P.K., L.M., and S.S. are supported by the intramural research program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute. The other authors declare no conflicts of interest.

Export

Vol 230

P. 55 - mars 2021 Retour au numéro

Article précédent

Fish Oil Emulsion Reduces Liver Injury and Liver Transplantation in Children with Intestinal Failure-Associated Liver Disease: A Multicenter Integrated Study
Kathleen M. Gura, Muralidhar H. Premkumar, Kara L. Calkins, Mark Puder

| Article suivant

50 Years Ago in The Journal of Pediatrics : Understanding the Molecular Basis of 11p13 Deletion
Philip F. Giampietro

Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.

Déjà abonné à cette revue ?

connectez-vous ou créez un compte

Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders - 22/02/21

Abstract

Objective

Study design

Results

Conclusions

Plan

Export citations

Fichier

Contenu

Accès rapides

Mon compte

Aide & support

Plateformes Elsevier Masson

Déclaration CNIL