Hereditary Hemorrhagic telangiectasia: a rare familial case with delayed diagnosis despite decades of recurrent bleeding

Abstract

Hereditary Hemorrhagic Telangiectasia (HHT), or Osler-Weber-Rendu syndrome, is a rare autosomal dominant vascular disorder characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations (AVMs). We report the case of a 45-year-old male with a 20-year history of recurrent spontaneous epistaxis, chronic fatigue, and iron deficiency anemia, unresponsive to repeated nasal cauterizations. A strong family history of similar bleeding episodes in his mother and son heightened clinical suspicion. Examination revealed severe pallor without visible telangiectasias. Upper gastrointestinal endoscopy demonstrated telangiectatic lesions, while imaging excluded pulmonary and cerebral AVMs. Genetic testing confirmed HHT type 2 by detecting a pathogenic ACVRL1 gene variant. The patient was managed with intravenous iron, blood transfusions, topical nasal care, and laser therapy for refractory epistaxis. This case underscores the diagnostic challenges of HHT without classical telangiectasias and highlights the importance of early genetic testing and family screening to prevent serious complications. © The Author(s) 2025. Published by Oxford University Press.