Rendu-Osler-Weber Syndrome with Gastrointestinal, Hepatic, and Pancreatic Involvement
DOI:
https://doi.org/10.22516/25007440.1216Keywords:
Rendú-Osler-Weber syndrome, anemia, liver, pancreasAbstract
Rendu-Osler-Weber syndrome (ROWS) is characterized by the development of aberrant vascular structures such as dilated microvessels and arteriovenous malformations (AVMs) in the skin, gastrointestinal (GI) tract, lungs, liver, brain, and less commonly in the kidneys and pancreas. Complications include strokes, septic emboli, mesenteric ischemia, portal hypertension, and high-output cardiac failure. We report the case of a 52-year-old male patient with a history of recurrent epistaxis since adolescence and a family history of the same condition, who presented with symptoms of severe iron deficiency anemia. Endoscopic and radiologic studies confirmed the diagnosis of Rendu-Osler-Weber syndrome with hepatic and pancreatic involvement. The patient was referred for argon plasma coagulation therapy.
Downloads
References
del Toro Ravelo LM, Acosta Suárez R, Gómez Conde SY, Chia Proenza D, Rivadeneira Jácome JF, del Toro Ravelo LM, et al. Enfermedad de Rendu-Osler-Weber con presentación inusual. Revista Cubana de Reumatología. 2022;24(2):e1002.
de Gussem EM, Kroon S, Hosman AE, Kelder JC, Post MC, Snijder RJ, et al. Hereditary Hemorrhagic Telangiectasia (HHT) and Survival: The Importance of Systematic Screening and Treatment in HHT Centers of Excellence. J Clin Med. 2020;9(11):3581. https://doi.org/10.3390/jcm9113581
Viteri-Noël A, González-García A, Patier JL, Fabregate M, Bara-Ledesma N, López-Rodríguez M, et al. Hereditary Hemorrhagic Telangiectasia: Genetics, Pathophysiology, Diagnosis, and Management. J Clin Med. 2022;11(17):5245. https://doi.org/10.3390/jcm11175245
Letteboer TGW, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, et al. Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. Hum Genet. 2005;116(1-2):8-16. https://doi.org/10.1007/s00439-004-1196-5
Jackson SB, Villano NP, Benhammou JN, Lewis M, Pisegna JR, Padua D. Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature. Dig Dis Sci. 2017;62(10):2623-30. https://doi.org/10.1007/s10620-017-4719-3
Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet. 2011;48(2):73-87. https://doi.org/10.1136/jmg.2009.069013
Alkhalid Y, Darji Z, Shenkar R, Clancy M, Dyamenahalli U, Awad IA, et al. Multidisciplinary coordinated care of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). Vasc Med. 2023;28(2):153-65. https://doi.org/10.1177/1358863X231151731
Lee B, Lee JE, Cho JS, Shin KS, You SK, Cheon KS, et al. Pancreatic Arteriovenous Malformation as an Unusual Cause of Chronic Gastrointestinal Bleeding in a Patient with Early Gastric Cancer: Multimodality Imaging Spectrum with Pathologic Correlation. Investig Magn Reson Imaging. 2015;19(4):241. https://doi.org/10.13104/imri.2015.19.4.241
Welle CL, Welch BT, Brinjikji W, Ehman EC, Venkatesh SK, Johnson MP, et al. Abdominal manifestations of hereditary hemorrhagic telangiectasia: a series of 333 patients over 15 years. Abdom Radiol (NY). 2019;44(7):2384-91. https://doi.org/10.1007/s00261-019-01976-7
Al-Samkari H. Hereditary hemorrhagic telangiectasia: systemic therapies, guidelines, and an evolving standard of care. Blood. 2021;137(7):888-95. https://doi.org/10.1182/blood.2020008739
Faughnan ME, Mager JJ, Hetts SW, Palda VA, Ratjen F. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Ann Intern Med. 2021;174(7):1035-6. https://doi.org/10.7326/M20-1443
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2025 Revista colombiana de Gastroenterología
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Aquellos autores/as que tengan publicaciones con esta revista, aceptan los términos siguientes:
Los autores/as ceden sus derechos de autor y garantizarán a la revista el derecho de primera publicación de su obra, el cuál estará simultáneamente sujeto a la Licencia de reconocimiento de Creative Commons que permite a terceros compartir la obra siempre que se indique su autor y su primera publicación en esta revista.
Los contenidos están protegidos bajo una licencia de Creative Commons Reconocimiento-NoComercial-SinObraDerivada 4.0 Internacional.
