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

Autor: Muhammad Mustafa Arif Siddiqui, Tayyaba Hafeez, Rafi Ud Din
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Journal of the Pakistan Medical Association, Vol 74, Iss 4 (2024)
Druh dokumentu: article
ISSN: 0030-9982
DOI: 10.47391/JPMA.9577
Popis: 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.
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