Hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that is characterized by multiple arteriovenous malformations (AVMs) involving the skin, mucosal surfaces, and internal organs. HHT has an age-dependent penetrance and usually initially presents with recurrent epistaxis followed by the characteristic telangiectasias of the face, oropharynx, and hands over time. Patients often have vascular malformations that involve their lungs, brain, spinal cord, and gastrointestinal tract as well, which are the main causes of morbidity in patients with HHT. The sequelae of visceral organ involvement include ischemic stroke, cerebral bacterial abscesses, intracranial hemorrhage, chronic hypoxia, dyspnea with exertion, pulmonary hypertension, high output heart failure, gastrointestinal bleeds and liver failure.