Telangiectasias, recurrent epistaxis and a strong family history—a case of Osler-Weber-Rendu Syndrome in Pakistan

Authors

DOI:

https://doi.org/10.47391/JPMA.9577

Keywords:

Recurrent epistaxis, Telangiectasias, Arteriovenous malformations, Autosomal dominant, Hereditary haemorrhagic telangiectasia

Abstract

Osler-Weber-Rendu syndrome or Hereditary Haemorrhagic Telangiectasia (HHT) is a rare condition, with very few reported cases, especially in Pakistan. As healthcare workers, we encounter multiple cases of recurrent epistaxis in the emergency as well as out-patient departments. However, patients are usually treated symptomatically without a thorough workup. HHT should be considered among the differentials for recurrent epistaxis, as a clinical diagnosis can be made with detailed family history and physical examination. Here is the case of a 58-year-old male who presented to the Gastroenterology OPD, Combined Military Hospital, Lahore, in November 2021, with complaints of generalised weakness and blood in stools. He had a history of recurrent epistaxis and telangiectasias, and further inquiry revealed a strong family history of similar symptoms. He was diagnosed as a case of Osler-Weber-Rendu Syndrome. Informed consent was taken from the patient prior to the writing of the manuscript.

Published

2024-03-20

How to Cite

Siddiqui, M. M. A., Hafeez, T., & Rafi Ud Din. (2024). Telangiectasias, recurrent epistaxis and a strong family history—a case of Osler-Weber-Rendu Syndrome in Pakistan. Journal of the Pakistan Medical Association, 74(4), 800–803. https://doi.org/10.47391/JPMA.9577

Issue

Section

Case Report