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

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 outpatient departments. However, patients are us...

Full description

Saved in:
Bibliographic Details
Published in:Journal of the Pakistan Medical Association 2024-04, Vol.74 (4), p.800-803
Main Authors: Arif Siddiqui, Muhammad Mustafa, Hafeez, Tayyaba, Din, Rafi Ud
Format: Article
Language:English
Subjects:
Arteriovenous malformations
Autosomal dominant
Care and treatment
Complications and side effects
Diagnosis
Epistaxis - diagnosis
Epistaxis - etiology
Hereditary haemorrhagic telangiectasia
Humans
Male
Middle Aged
Pakistan
Recurrence
Recurrent epistaxis
Telangiectasia, Hereditary Hemorrhagic
Telangiectasia, Hereditary Hemorrhagic - complications
Telangiectasia, Hereditary Hemorrhagic - diagnosis
Telangiectasia, Hereditary Hemorrhagic - genetics
Telangiectasias
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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 outpatient 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.
ISSN:0030-9982
DOI:10.47391/JPMA.9577