Abstract
<h3>Introduction</h3> Hereditary angioedema (HAE) is a rare, genetic condition characterized by swelling attacks which are often debilitating. Three HAE-types are known, with types I and II associated with reduced/functionally abnormal C1 inhibitor protein (C1-INH) and the third type having normal C1-INH. This study compared physician and patient-reported real-world outcomes in patients with HAE type I/II vs normal C1-INH. <h3>Methods</h3> Real-world data from a cross-sectional survey of HAE-treating physicians and their patients in the USA were utilized. Physicians recorded patient disease activity and severity, and recent attack history. Patient-reported outcomes (PROs) were also collected. <h3>Results</h3> Of the 368 patients in this study, 340 (92.4%) had HAE type I/II and 28 (7.6%) had normal C1-INH. Physician-reported data and PROs are shown in the table. Physicians reported that a higher proportion of patients with normal C1-INH had moderate/high disease activity and moderate/severe disease severity both at diagnosis and currently, versus those with HAE type I/II. Attack severity and hospitalization rate during the most recent attack were higher for those with normal C1-INH than those with HAE type I/II. Patients with normal-C1-INH reported lower health status and quality of life, as measured by the EQ-5D-5L and AE-QoL respectively. On average, a higher percentage of patients with normal C1-INH reported absenteeism and work/activity impairment due to HAE, compared to patients with HAE type I/II. <h3>Conclusion</h3> These real-world findings suggest that patients with HAE with normal C1-INH have greater disease severity and activity, and experience higher impairment on their quality of life, work, and daily functioning.
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