Analysis of the effect of long-term prophylactic therapy on quality of life in patients with hereditary angioedema: Evidence from a patient-participatory registry

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Background: Hereditary angioedema is a rare disorder characterized by recurrent episodes of swelling of the skin and mucous membranes. Since 2021, the introduction of long-term prophylactic therapies in Japan has transformed treatment strategies; however, real-world data on attack frequency and patient-reported quality of life remain limited. Evidence from Japanese patients is needed to elucidate the clinical and social significance of prophylactic therapy. Methods: We analyzed longitudinal data from 16 patients with hereditary angioedema enrolled in RUDY JAPAN, a patient-participatory registry for rare diseases, between 2019 and 2024. Patients were categorized into three groups: those who never received prophylaxis throughout the study period, those observed before starting prophylaxis, and the same patients after starting prophylaxis. Attack frequency and patient-reported quality of life were compared across these groups. Results: A total of 191 attack episodes and 81 quality of life questionnaires were collected. The mean number of attacks was highest in patients before prophylaxis and lowest after initiation, demonstrating substantial suppression of attacks with long-term prophylaxis. Overall, quality of life scores showed only modest changes, but domain-specific improvements were observed, particularly in the functional and fears/shame domains, reflecting reduced psychological and social burden. Treatment behaviors also varied across groups: only half of the attacks were treated in patients without prophylaxis, whereas nearly all attacks were treated in those who later received prophylaxis. Conclusions: This study provides the first real-world evidence from Japan that long-term prophylaxis substantially reduces attacks and improves selected quality of life domains in hereditary angioedema. Despite ongoing challenges, the findings demonstrate that prophylaxis represents a transformative advance in clinical management, offering patients protection against life-threatening attacks and relief from the disease’s psychosocial burden.

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