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 :
- Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med. 1995;333:918-924.
- 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.
- 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.