Hereditary Angioedema (HAE) is a rare and severe genetic disorder caused by the deficiency of C1 Esterase Inhibitor (C1-INH), leading to unexpected and potentially fatal episodes of edema. This study assessed the quality of life (QoL) of adults with HAE in a Brazilian cohort, which comprised 29 adult patients with a confirmed HAE diagnosis, recruited from a public referral hospital. Participants completed the international HAE-specific quality of life questionnaire (IHAE-QoL v.1.1) at three time intervals: baseline, 6 months, and 1 year. This instrument assesses multiple QoL domains, including physical, emotional, social, and treatment-related aspects. Data were analyzed using SPSS v.29.0. and descriptive statistics. Group comparisons were conducted using chi-square, Student's t-test, and Mann-Whitney U tests. The results showed statistically significant differences in the impact of HAE on QoL between sexes. While 42.9% of males reported work/study limitations, 90.9% of females expressed concern over treatment availability. Additionally, 57.1% of men reported a moderate impact on social life. The findings highlight the substantial impact of HAE on patients' quality of life and highlight sex-specific challenges, reinforcing the need for targeted interventions to enhance disease management and QoL.
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Kruk et al. (2025) studied this question.
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