A Rare Cause of Recurrent Iron Deficiency Anemia: Osler Weber Rendu Syndrome

Aslı Korur; Çiğdem Gereklioğlu; Süheyl Asma; Nurhilal Büyükkurt; Barış Soydaş; Gürcan Erbay

doi:10.5455/tjfmpc.193253

A Rare Cause of Recurrent Iron Deficiency Anemia: Osler Weber Rendu Syndrome

Yıl 2016, Cilt: 10 Sayı: 1, 0 - 0, 15.03.2016

Aslı Korur Çiğdem Gereklioğlu Süheyl Asma Nurhilal Büyükkurt Barış Soydaş Gürcan Erbay

https://doi.org/10.5455/tjfmpc.193253

Öz

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.
Giordano P, Lenato GM, Suppressa P, Lastella P, Dicuonzo F, Chiumarulo L, et al. Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. J Pediatr. Jul 2013;163(1):179-86.
Nanda S, Bhatt SP. Hereditary hemorrhagic telangiectasia: epistaxis and hemoptysis. CMAJ 2009;180:838.
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.
Manawadu D, Vethanayagam D, Ahmed SN. Hereditary hemorrhagic telangiectasia: transient ischemic attacks. CMAJ 2009; 180: 836-7.
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.

Yıl 2016, Cilt: 10 Sayı: 1, 0 - 0, 15.03.2016

Aslı Korur Çiğdem Gereklioğlu Süheyl Asma Nurhilal Büyükkurt Barış Soydaş Gürcan Erbay

https://doi.org/10.5455/tjfmpc.193253

Öz

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.
Giordano P, Lenato GM, Suppressa P, Lastella P, Dicuonzo F, Chiumarulo L, et al. Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. J Pediatr. Jul 2013;163(1):179-86.
Nanda S, Bhatt SP. Hereditary hemorrhagic telangiectasia: epistaxis and hemoptysis. CMAJ 2009;180:838.
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.
Manawadu D, Vethanayagam D, Ahmed SN. Hereditary hemorrhagic telangiectasia: transient ischemic attacks. CMAJ 2009; 180: 836-7.
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.

Toplam 12 adet kaynakça vardır.

Ayrıntılar

Bölüm	Orijinal Makaleler
Yazarlar	Aslı Korur Çiğdem Gereklioğlu Süheyl Asma Nurhilal Büyükkurt Bu kişi benim Barış Soydaş Bu kişi benim Gürcan Erbay Bu kişi benim
Yayımlanma Tarihi	15 Mart 2016
Gönderilme Tarihi	28 Mart 2016
Yayımlandığı Sayı	Yıl 2016 Cilt: 10 Sayı: 1

Kaynak Göster

Vancouver	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).