Hereditary Hemorrhagic Telangiectasia

摘要

Discussion. HHT is a rare autosomal dominant disease of aberrant blood vessel formation leading to AVMs. It involves multiple organ systems, including the skin, mucosal membranes, lungs, gastrointestinal tract, liver, and brain. The incidence of HHT in North America is approximately 1 in 10,000. Among the most common clinical features of the disease are epistaxis and mucocutaneous telangiectasias. AVMs also can develop in lungs, liver, gastrointestinal tract, and brain, leading to potentially catastrophic complications. Pulmonary AVMs affect from 15% to 30% of patients with HHT and can lead to hypoxemia, high-output heart failure, stroke, and brain abscess. Approximately 70% of pulmonary AVMs occur in patients with HHT.