Clinical expressions, disease course, quality of life, and resilience in subgroups of patients with angioedema
Year: 2026
Type: article
Study design: Observational Study
Abstract: Objective: Patients with angioedema caused by C1INH deficiency (HAE-C1INH) experience recurrent episodes of unpredictable swelling. Recently, new genetic variants have been identified, whereas patients with unknown causes and no identifiable genetic mutations constitute a distinct subgroup. As a lifelong condition, angioedema significantly impacts the patient's quality of life and ability to cope. With the emergence of new angioedema variants, comparing the characteristics and coping experiences across different designated subgroups presents an important unmet need. Materials and methods: A cross-sectional, prospective study was performed to analyze 3 angioedema subgroups: A: Hereditary Angioedema Types 1,2 (HAE-C1INH), B: Hereditary Angioedema with factor 12 mutation (HAE-FXII), and C: Angioedema with unknown cause (AE-UNK). Two validated questionnaires were used: The Evaluation of Prodromes and Attacks Questionnaire (HAE-EPA, part Q1) and the 10-item Connor-Davidson Resilience Scale (CD-RISC). Results: The study involved 111 patients with a mean age of 44.51 years. The mean age of onset was 16.1 years, and the mean age at diagnosis was 19.58 years. Subgroups A, B, and C consisted of 72 (64%), 16 (14%), and 23 (20%) patients, respectively. The mean age of onset was earlier in the A subgroup (10.31 years) than in the B (19.70 years) and C (30.34 years) subgroups (p < 0.001). Similarly, the mean age at diagnosis was earlier in the A subgroup (13.85 years) compared to the B (24.93 years) and C (34.73 years) subgroups (p < 0.001). Significant differences were found in the triggers of attacks, but not in the body location of the attacks or in the experience of pre-attack prodromes. Subgroup A reported the highest mean coping ability (7.88 ± 2.44) compared to those in Subgroup B (5.13 ± 3.07) and Subgroup C (5.48 ± 2.81) (F = 41.6, p < .001). The mean quality of life was significantly higher in Subgroup A (8.47 ± 2.06) than in Subgroup C (7.74 ± 1.76) (F = 13.0, p < .001). The mean total Connor-Davidson Resilience score was highest in Subgroup A (31.25 ± 4.86), followed by Subgroup B (30.87 ± 5.21), and lowest in Subgroup C (27.21 ± 6.43) (F = 5.19, p < 0.001). Conclusion: The designated subgroups differ in both clinical course and coping strategies. Recognizing the unique characteristics of each AE subgroup can improve the management and quality of life of patients with this lifelong and rare disease.
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,508
OpenAlex ID: W4414561933