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

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.

Keywords

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