Osler-Weber-Rendu Disease: A Rare Contributor to Recurrent Iron Deficiency Anemia


Authors : Kalva Suchitra Reddy; Mekala Siddhanth Kumar; Usha Topalkatti; Param Kadam

Volume/Issue : Volume 9 - 2024, Issue 10 - October


Google Scholar : https://shorturl.at/uGG56

Scribd : https://tinyurl.com/46ss6n4k

DOI : https://doi.org/10.38124/ijisrt/IJISRT24OCT1822

Note : A published paper may take 4-5 working days from the publication date to appear in PlumX Metrics, Semantic Scholar, and ResearchGate.


Abstract : Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu syndrome, is a rare genetic disorder inherited in an autosomal dominant pattern. It is marked by recurrent nosebleeds, arteriovenous malformations (AVMs), mucocutaneous telangiectasias, and often a family history of the condition. This case involves a 55-year-old woman with a prolonged history of spontaneous bleeding, particularly from lesions on her tongue, leading to chronic iron deficiency anemia. The case emphasizes the importance of considering HHT in patients with anemia and unexplained recurrent bleeding. It also underscores the value of targeted therapies and genetic counseling in managing the disorder.

References :

  1. Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med. 1995;333:918-924.
  2. Thappa DM, Laxmisha C. Recurrent bleeding from the tip of the index finger and mucocutaneous telangiectasia: Osler-Weber-Rendu syndrome. J Postgrad Med. 2002;48:274-277.
  3. 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.

Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu syndrome, is a rare genetic disorder inherited in an autosomal dominant pattern. It is marked by recurrent nosebleeds, arteriovenous malformations (AVMs), mucocutaneous telangiectasias, and often a family history of the condition. This case involves a 55-year-old woman with a prolonged history of spontaneous bleeding, particularly from lesions on her tongue, leading to chronic iron deficiency anemia. The case emphasizes the importance of considering HHT in patients with anemia and unexplained recurrent bleeding. It also underscores the value of targeted therapies and genetic counseling in managing the disorder.

Never miss an update from Papermashup

Get notified about the latest tutorials and downloads.

Subscribe by Email

Get alerts directly into your inbox after each post and stay updated.
Subscribe
OR

Subscribe by RSS

Add our RSS to your feedreader to get regular updates from us.
Subscribe