A case of Osler-Weber-Rendu syndrome associated with portal hypertension
DOI:
https://doi.org/10.18203/2349-3933.ijam20221716Keywords:
Osler-Weber-Rendu syndrome, Portal hypertension, Iron deficiency anaemiaAbstract
Osler-Weber- Rendu syndrome is a rare autosomal dominant vascular disorder, characterised by multiple telangiectases of the skin and mucous membranes with recurrent nasal and gastrointestinal bleedings and arteriovenous malformations of various organ systems. It is also called as hereditary hemorrhagic telangiectasia (HHT). The occurrence of telangiectases in the stomach and small bowel can result in chronic bleeding and anaemia. We report a rare case of 39 year old female with Osler Weber Rendu syndrome associated with portal hypertension. She had recurrent nasal and gastrointestinal bleeding, and presented with complaints of progressive dyspnea NYHA class III. On further evaluation she was found to have portal hypertension, which is a rare association.
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Khoja AM, Jalan RK, Jain DL, Kajale OV. OslerWeberRendu disease: A rare cause of recurrent hemoptysis. Lung India. 2016;33:3136.
Sautter NB, Smith TL. Treatment of Hereditary Hemorrhagic TelangiectasiaRelated Epistaxis. Otolaryngol Clin N Am. 2016;49(3):639–654.Lee HE, Sagong C, Yeo KY, Ko JY, Kim JS, Yu HJ. A case of hereditary hemorrhagic telangiectasia. Ann Dermatol. 2009;21(2):206-8.
Guttmacher AE, Marchuk DA, White RL. Hereditary Haemorragic Telangiectasia. New England J Med. 1995;333:918-24.
Haitjema T, Westermann CJJ, Overtoom TTC, Timmer R, Disch F, Mauser H et al. Hereditary Hemorrhagic Telangiectasia (Osler-weber-Rendu Disease). Arch Intern Med. 1996;56(8):714-9.
Singh A, Suri V, Jain S, Varma S. Rare manifestations in a case of Osler-Weber-Rendu disease. BMJ Case Rep. 2015;2015:bcr2014207852.
Pahl K, Choudhury A, Kasthuri RS. Causes and severity of anemia in hereditary hemorrhagic telangiectasia. Blood. 2016;128:3776.
Garcia-Tsao G. Liver involvement in hereditary hemorrhagic telangiectasia (HHT). Journal of Hepatology. 2007;46(3):499-507.
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.
Bernard G, Mion F, Henry L, Plauchu H, Paliard P. Hepatic involvement in hereditary hemorrhagic telangiectasia: Clinical, radiological and hemodynamic studies of 11 cases. Gastroenterology. 1993;105:482-7.
Willis J, Mayo MJ, Rogers TE, Chen W. Hereditary haemorrhagic telangiectasia involving the bone marrow and liver. British Journal of Haematology. 2009;145(2):150.
Folz BJ, Wollstein AC, Alfke H. The value of screening for multiple arterio-venous malformations in hereditary hemorrhagic telangiectasia: a diagnostic study. European Archives of Oto-Rhino-Laryngology. 2004 ;261(9):509-16.
Macaluso FS, Maida M, Alessi N, Cabibbo G, Cabibi D. Primary biliary cirrhosis and hereditary hemorrhagic telangiectasia: When two rare diseases coexist. World J Hepatol. 2013;5(5):288-91.
Nishioka Y, Akamatsu N, Sugawara Y, Kaneko J, Arita J, Sakamoto Y et al. Hereditary hemorrhagic telangiectasia with hepatic vascular malformations. Case Reports in Medicine. 2015; 2015.
Hosman A, Westermann CJ, Snijder R. Follow-up of thalidomide treatment in patients with hereditary haemorrhagic telangiectasia. Rhinology. 2015;53:340-4.
Van Cutsem E, Rutgeerts P, Vantrappen G. Treatment of bleeding gastrointestinal vascular malformations with oestrogenprogesterone. Lancet. 1990;335(8695):953-5.
Droege F, Thangavelu K, Stuck BA, Stang A, Lang S, Geisthoff U. Life expectancy and comorbidities in patients with hereditary hemorrhagic telangiectasia. Vasc Med. 2018;23:377-83.
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