Characterization of hereditary angioedema population in Argentina: A nationwide study

Data about hereditary angioedema (HAE) from Latin American countries are lacking. Our main objective was to characterize the epidemiology, clinical presentation, and treatment patterns of HAE patients from Argentina at a nationwide level.

A non-interventional, observational, web-based survey was conducted, aimed at physicians treating patients with a confirmed diagnosis of HAE. Data about demographic characteristics, HAE type and family history, clinical pattern, attack frequency and triggers, treatment patterns, and use of validated HAE scores were collected to develop a patient registry.

Data from 538 patients submitted by 75 physicians were obtained. Median age was 33 years (IQR:20-46). Most patients were female (58.73%). Median age at presentation of first symptoms was 12 years (IQR:5-18). Median time from presentation to a confirmed diagnosis of HAE was 10 years (IQR:5-18). Most patients had deficiency of C1-INH (HAE-1, 76%). Variants in the F12 gene (HAE-FXII) were found in 7% of subjects; variants in DAB2IP (p.D239 N) (HAE-DAB2IP) were identified in 7 subjects. Severity of HAE was predominantly moderate (37%). Most reported triggers were emotional stress (75.55%) and physical trauma (69.59%). Specific treatment for attacks was prescribed for 88% of patients. Icatibant was the most prescribed drug (76.91%). Long-term prophylaxis (LTP) was used in 28.34% of subjects, with lanadelumab being the most prescribed agent (58.45%).

Argentine HAE patients share several characteristics with patients from real-world studies, but some findings (time to diagnosis, low LTP rates, relatively high rates of HAE-FXII and a novel, recently characterized form of HAE-DAB2IP) require further research.