Year 2023 / Volume 115 / Number 3
Letter
Hepatic involvement in hereditary hemorrhagic telangiectasia mimicking focal nodular hyperplasia

152-154

DOI: 10.17235/reed.2022.9069/2022

Daniel Alvarenga Fernandes, Ilka de Fátima Ferreira Santana Boin, José de Arimatéia Batista Araújo Filho, Elaine Cristina de Ataíde, Edson Marchiori, Fabiano Reis,

Abstract
Accurate diagnosis of hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is important for reducing the risk of complications. Hepatic involvement in HHT is usually asymptomatic, but when present can cause noted morbidity and mortality. A 62-year-old woman presented with moderate upper-abdominal pain and tachycardia. A diagnosis of HHT was made based on the findings of hepatic involvement in a contrast-enhanced abdominal computed tomography (CT) scan, the presence of arteriovenous malformations (AVMs; a.k.a. telangiectasias) on mucocutaneous surfaces, and a history of recurrent epistaxis. Imaging methods are important diagnostic tools in patients suspected of having HHT.
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References
1-Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu–Osler–Weber syndrome). Am J Med Genet 2000; 91:66–67.
2- Dakeishi M, Shioya T, Wada Y, et al. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. Hum Mutat. 2002;19:140-8.
3- Faughnan ME, Palda VA, Garcia-Tsao G, et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. Journal of Medical Genetics 2011;48:73-87.
4- Faughnan ME, Mager JJ, Hetts SW, et al. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Ann. Intern. Med. 2020; 173(12): 989–1001.
5- Garre-Sánchez MC, Álvarez-Higueraz FJ, Muñoz-Tornero M, et al. Colour-Doppler features of hepatic involvement in Rendu-Osler-Weber disease. Rev Esp Enferm Dig 2013; 105 (10): 622-623.
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Citation tools
Alvarenga Fernandes D, de Fátima Ferreira Santana Boin I, Batista Araújo Filho J, Cristina de Ataíde E, Marchiori E, Reis F, et all. Hepatic involvement in hereditary hemorrhagic telangiectasia mimicking focal nodular hyperplasia . 9069/2022


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Publication history

Received: 08/07/2022

Accepted: 22/07/2022

Online First: 31/08/2022

Published: 07/03/2023

Article revision time: 11 days

Article Online First time: 54 days

Article editing time: 242 days


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