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

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.

___

  • 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.
Turkish Journal of Family Medicine and Primary Care-Cover
  • ISSN: 1307-2048
  • Yayın Aralığı: Yılda 4 Sayı
  • Başlangıç: 2007
  • Yayıncı: -
Sayıdaki Diğer Makaleler

What is Health Literacy? How to measure it? Why is it important?

Candan ÇOPURLAR KENDİR, MEHTAP KARTAL

Yaşlılık Döneminde Koruyucu Sağlık Bakımı

Ahmet ÖZTÜRK, Salim ÖZENÇ, Sebahattin CANMEMİŞ, Ergün BOZOĞLU

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

ASLI KORUR, ÇİĞDEM GEREKLİOĞLU, SÜHEYL ASMA, NURHİLAL BÜYÜKKURT, Barış SOYDAŞ, Gürcan ERBAY

Baş Dönmesi Engellilik Envanterinin Türkçe Geçerlilik ve Güvenilirlik Çalışması

Metin CANBAL, Sevsen CEBECİ, Gülsüm DUYAN ÇAMUR, Hanefi KURTARAN, İsmail Arslan

Active Teaching and Learning Strategies in Medical Education: Perception and Barriers among Faculty Members at Oman Medical College, Sohar/Bowshar Sultanate of Oman

Firdous JAHAN, Muhammad A A SİDDİQUİ, Maryam Abdul-Jabar AL-KHOURİ, Alka AHUJA, Mustafa Manhal ALWARD

Sağlık Okuryazarlığı Nedir? Nasıl Değerlendirilir? Neden Önemli?

Candan Kendir Çopurlar, Mehtap Kartal

Sigarayı Bırakmada İrade Her Şey mi?

Onur ÖZTÜRK, Mustafa Yasin SELÇUK, BEKTAŞ MURAT YALÇIN, Mustafa ÜNAL

On Dört Yaşındaki Bir Hastada El-Ayak-Ağız Hastalığı: Bir Olgu Sunumu

Beytullah İsmet DEMİRHAN, Zafer Erdin DEMİRBAŞ, Tarık SARI, Adem TOPRAK, Murat NAVRUZ

Genç Aile Hekimleriyle Wonca Avrupa 2015 Röportajı

Tuğba ONAT, Candan ÇOPURLAR KENDİR, Berk GEROĞLU, Fikret Merter ALANYALİ, Kyle HOEDEBECKE

Yaşlılık Döneminde İşitme Kaybı ve İşitme Kaybına Yaklaşımlar

Asuman ERDOĞAN ALNIAÇIK