Multidimensional Assessment of Laryngeal Risk and Quality-of-Life Impairment in Pediatric Hereditary Angioedema: A Case Report
Year: 2026
Type: article
Study design: Case Report
Abstract: Hereditary angioedema (HAE) is a rare bradykinin-mediated disorder characterized by recurrent subcutaneous, abdominal, and potentially life-threatening laryngeal swelling. Disease activity is commonly monitored using the Angioedema Activity Score (AAS), although cumulative activity measures may not adequately reflect anatomical risk or imminent airway compromise. We report a pediatric patient with laryngeal HAE in whom comprehensive clinical evaluation, complement testing, and validated patient-reported outcome measures (PROMs) (AAS, Angioedema Control Test (AECT), and Angioedema Quality of Life Questionnaire (AE-QoL)) were applied. Although AAS7 and AAS28 suggested mild to low overall disease activity, the patient had recently experienced severe laryngeal edema. In contrast, a one-day AAS captured severe activity (15 points), AECT indicated markedly poor disease control (1 point), and AE-QoL demonstrated substantial quality-of-life impairment (72%), particularly within the fears/shame domain (92%). This case highlights that in high-risk HAE phenotypes, cumulative activity scores alone may underestimate true clinical risk, and that a multidimensional assessment integrating disease activity, control, anatomical localization, and quality-of-life burden is essential for accurate risk stratification and optimal management in pediatric patients.
Source: Cureus
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7154058764