Clinical manifestations, diagnosis, and treatment of hereditary angioedema: survey data from 94 physicians in Japan.

Background: Hereditary angioedema (HAE) is a rare and potentially life-threatening condition that results from mutations in the C1 inhibitor (C1-INH). Awareness of HAE among physicians in Japan is increasing, but real-world data are lacking.

Objective: To explore the clinical manifestations, diagnosis, quality of life (QOL), and treatment of Japanese patients with HAE.

Methods: A 14-point survey was developed and sent to 387 physicians in Japan (March to May 2014) to gather clinical data on their HAE patients' family history, severity and frequency of attacks, QOL, and therapy use.

Results: Data on 171 HAE patients were collected from 94 physicians (24.3% response rate). Of the patients, 76.6% had a family history of angioedema (AE), and 11.7% had experienced a death in the family due to an AE attack. HAE type I occurred in 99 patients (57.9%), HAE type II occurred in 9 patients (5.3%), HAE with normal C1-INH occurred in 3 patients (1.8%), and an additional 60 patients were unclassified. Mean time from initial symptoms to diagnosis was 13.8 years. Attacks that required airway management and abdominal surgery with uncertain diagnosis were observed in 9.5% and 2.9% of patients, respectively. In the past year, 21.0% of patients presented with more than 10 attacks, 21.1% were admitted to the hospital for more than 1 day, and 28.7% were absent from work or school. On-demand C1-INH concentrate and prophylactic tranexamic acid were used in approximately half of the patients (47.4% and 39.2%, respectively).

Conclusion: HAE is a severe condition characterized by recurrent AE attacks. In Japan, delayed patient diagnosis and limited use of HAE-specific therapies exacerbate the burden on HAE patients.