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Published on: May 29, 2021
From Epistaxis to Embolization: A Case of Hereditary Hemorrhagic Telangiectasia Presenting With Spontaneous
VigneshKumar Kathiresan1, Balamugesh Thangakunam2
1Pulmonary Medicine, Christian Medical College Vellore, Ranipet Campus, Vellore, IND.
Abstract:
Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a rare autosomal dominant disorder characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations (AVMs). We report a case of a 58-year-old female who presented with acute dyspnea and right-sided pleuritic chest pain. Her history included recurrent epistaxis since childhood and a positive family history of similar symptoms. Imaging revealed a right-sided hemorrhagic pleural effusion and pulmonary arteriovenous malformations (PAVMs), confirmed by CT pulmonary angiography and bubble contrast echocardiography. She underwent intercostal drainage followed by coil embolization of two large AVMs, with subsequent Amplatzer plug embolization on the contralateral side. Based on the Curacao criteria, a diagnosis of definite HHT was established. This case highlights hemothorax as a rare but potentially life-threatening initial manifestation of HHT. Early recognition, appropriate imaging, and timely embolization are essential to prevent recurrence and complications in patients with undiagnosed HHT presenting with pulmonary symptoms.
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