Hereditary angioedema with C1 inhibitor deficiency: Clinical presentation and quality of life of 193 French patients

摘要

Background Hereditary angioedema (HAE) is a rare and potentially life-threatening disease. New specific treatments are available. Objective To identify patients' features and patients' best therapeutic option. Methods A 1-year, multicenter, retrospective study was performed. The primary objective was to examine the clinical presentation of HAE. Secondary objectives included patient characteristics, management of HAE over 12 months, and health-related quality of life using the SF-36v2 questionnaire. Results One hundred ninety-three patients were included, and 69.4% were women. In the 12-month period, the mean number of HAE attacks was 7.6. Among the 568 reported attacks, localizations were the abdomen (57.1%), peripheral limbs (42.5%), upper airway (7.9%), and face (6.9%); 31.6% of attacks were severe and occurred statistically more often in women (P <.02). Compared with a population of allergic patients, all age- and sex-adjusted scores were significantly lower in patients with HAE (P <.05) except for the physical component summary. Health-related quality of life negatively correlated with the annual number of attacks and was markedly altered for patients having more than 5 attacks per year (P <.05 for all dimensions). Conclusion HAE is a severe disease that places a heavy burden on quality of life.