ArticleOxford medical case reports2025
Hereditary Hemorrhagic telangiectasia: a rare familial case with delayed diagnosis despite decades of recurrent bleeding.
Article in Oxford medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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
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