Clinical features and treatment of hereditary hemorrhagic telangiectasia

This study is designed to analyze the clinical features and treatment options for patients with HHT. Hospitalized patients with a definitive diagnosis of HHT from November 1973 to July 2016 in Peking Union Medical College Hospital were identified after reviewing medical records and electronic databases. Further follow-up data of these patients were collected from outpatient clinical visits and/or telephone interviews. We identified a total of 20 patients, 7 males and 13 females. The mean age was 42.4 ± 20.3 years. Epistaxis (18/20) was the most common presentation, followed by telangiectases of the oral buccal mucosa, tongue and/or lips (14/20), pulmonary AVMs (12/19), hepatic AVMs (9/17), gastrointestinal telangiectases (9/9), and encephalic AVMs (1/12). The correct diagnosis of HHT was delayed on average by about 26.4 ± 17.0 years from the onset of HHT-related clinical signs and symptoms. Although epistaxis is usually presented in childhood (mean age 11 ± 7.1 years), gastrointestinal telangiectasia was often encountered in late middle age (mean age 55.4 ± 12.8 years). Bleeding and anemia were the most common complications. Molecular analysis was conducted in 4 patients. Only 1 patient was found to have a single-base deletion in ENG gene. The mean duration of follow-up of the patients was 41.8 months. The efficacy of locoregional therapy was of limited value and short-lived. Two patients were treated systemically with thalidomide, and their symptoms of ...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research