Background: Hemorrhagic Hereditary Telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a rare genetic disorder characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations.
Aim and methods: We describe the case of a 64-year old woman in which radiology was useful to interpret an apparently unexplained constellation of symptoms.
Results: Brain MRI showing ischemic stroke, pulmonary angiography demonstrating arteriovenous malformations, and capsule endoscopy detecting telangiectasias in the jejunum, along with a clinical history of recurrent epistaxis, allowed us to diagnose HHT.
Conclusions: HHT is rare and difficult to diagnose. Radiology can aid the clinical suspicion. www.actabiomedica.it.