Osler-Weber-Rendu Syndrome (hereditary hemorrhagic telengiectasis) is a hereditary disease with autosomal dominant inheritance characterized by muco-cutaneous telengiectasis, arterio-venous malformations in internal organs. The disease is manifested by telengiectasis in oral mucosa, ear, nasal mucosa, fingertips and finger-beds and recurrent hemorrhage. Epistaxis is among the typical findings of the disease. Coexistence with arterio-venous malformations is common. It may lead to gastrointestinal hemorrhage and neurologic problems due to mucosal telengiectasis. Herein, we presented a case who had recurrent iron deficiency anemia and diagnosed with Osler-Weber-Rendu Syndrome as the result of radiologic and endoscopic examinations performed due to the presence of oral telengiectasis.
Kaynakça
Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Eng J Med 1995;333:918-24.
Begbie ME, Wallace GM, Shovlin CL. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J. Jan 2003;79(927):18-24.
Shovlin CL, Hughes JM, Scott J, Seidman CE, Seidman JG. Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Am J Hum Genet 1997;61:68-79.
Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al . Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000;91:66-7.
Cottin V, Plauchu H, Bayle JY, Barthelet M, Revel D, Cordier JF. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med 2004;169: 994-1000.
Donaldson JW, McKeever TM, Hall IP, Hubbard RB, Fogarty AW. Complications and mortality in hereditary hemorrhagic telangiectasia: A population-based study. Neurology. 2015 May 5;84(18):1886-93. Epub 2015 Apr 10
Irani F, Kasmani R. Hereditary hemorrhagic telangiectasia: fatigue and dyspnea. CMAJ 2009; 180:839.
Memeo M, Stabile Ianora AA, Scardapane A, Buonamico P, Sabbà C, Angelelli G. Hepatic involvement in hereditary hemorrhagic telangiectasia: CT findings. Abdom Imaging 2004; 29: 211-20.
Seethala S, Shah H, Knollmann F, Ramani R, Němec J. Radiofrequency ablation of post-incisional atrial flutter and high-output heart failure in a patient with interrupted inferior vena cava and hereditary hemorrhagic telangiectasia. Hellenic J Cardiol 2013;54:474-9.
Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Eng J Med 1995;333:918-24.
Begbie ME, Wallace GM, Shovlin CL. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J. Jan 2003;79(927):18-24.
Shovlin CL, Hughes JM, Scott J, Seidman CE, Seidman JG. Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Am J Hum Genet 1997;61:68-79.
Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al . Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000;91:66-7.
Cottin V, Plauchu H, Bayle JY, Barthelet M, Revel D, Cordier JF. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med 2004;169: 994-1000.
Donaldson JW, McKeever TM, Hall IP, Hubbard RB, Fogarty AW. Complications and mortality in hereditary hemorrhagic telangiectasia: A population-based study. Neurology. 2015 May 5;84(18):1886-93. Epub 2015 Apr 10
Irani F, Kasmani R. Hereditary hemorrhagic telangiectasia: fatigue and dyspnea. CMAJ 2009; 180:839.
Memeo M, Stabile Ianora AA, Scardapane A, Buonamico P, Sabbà C, Angelelli G. Hepatic involvement in hereditary hemorrhagic telangiectasia: CT findings. Abdom Imaging 2004; 29: 211-20.
Seethala S, Shah H, Knollmann F, Ramani R, Němec J. Radiofrequency ablation of post-incisional atrial flutter and high-output heart failure in a patient with interrupted inferior vena cava and hereditary hemorrhagic telangiectasia. Hellenic J Cardiol 2013;54:474-9.
Korur A, Gereklioğlu Ç, Asma S, Büyükkurt N, Soydaş B, Erbay G. A Rare Cause of Recurrent Iron Deficiency Anemia: Osler Weber Rendu Syndrome. TJFMPC. 2016;10(1).
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