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Article Abstract
Background: Hereditary angioedema (HAE) is a rare autosomal dominant disorder with a prevalence of 1:50,000 individuals. Delayed diagnosis and deaths from asphyxia still occur.
Objective: To identify knowledge and management gaps regarding clinical, genetic, and therapeutic aspects of HAE in Brazil, aiming to improve patient care and outcomes.
Methods: A Brazilian multicenter HAE Registry was established, with patients' data included by treating physicians using the REDCap platform.
Results: Of the 820 HAE patients enrolled, 68.8% were female. Most (72.4%) presented HAE due to C1INH deficiency (HAE-C1INH), whereas 19.4% had HAE with normal C1INH caused by variants in the F12 gene (HAE-FXII). Onset of symptoms occurred earlier in HAE-C1INH as compared to HAE-FXII (mean 11.2 years versus 19.4 years, respectively), and time for diagnosis was shorter in patients younger than 18 years-old, as compared to those 18 years-old and older (mean 1.8 years versus 14.5 years, respectively). Regarding treatment, 52.8% received first-line on-demand therapies (Icatibant or plasma-derived C1INH). Only 4.8% used first-line options for long-term prophylaxis (LTP), such as lanadelumab or subcutaneous/intravenous pdC1INH. Attenuated androgens were used for LTP in 52% of patients, with adverse effects reported for 34.8%.
Conclusion: Brazilian patients with HAE share common aspects with global patients, including predominance in women, and HAE-C1INH as the most common subtype. Available genetic testing allowed for identification of a notable proportion of HAE-FXII (19.4% of the patients). Despite recent advances, access to first-line therapies for long-term prophylaxis of HAE attacks remains limited.
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| http://dx.doi.org/10.1016/j.jaip.2025.08.026 | DOI Listing |
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