Abstract
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterized by vascular dysplasia, including typically systemic telangiectases and arteriovenous malformations (AVMs). Due to its variable clinical manifestations, HHT patients often seek medical care from different medical subspecialties and thus experience delays in diagnosis and treatment.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 epistaxis, melena, and anemia were notably improved.Patients with HHT have variable clinical characteristics, and their diagnoses were delayed on average by about 26 years. An experienced multidisciplinary team is needed for the early diagnosis and optimal management of patients with HHT. Thalidomide may be an effective choice to alleviate the bleeding symptoms of patients with HHT.