Hereditary Angioedema Diagnosis Evaluation Score (HADES): A Clinical Scoring for Predicting Hereditary Angioedema

ZWIENER RICARDO; ZAMORA R; GALMARINI C; ROZENFELD PA

Congreso; 2025 AAAAI / WAO Joint Congress; 2025

Rationale: Hereditary angioedema (HAE) diagnosis poses challenges due to its rarity and overlapping symptoms with allergic and gastrointestinal conditions, resulting in misdiagnosis. The study aimed to develop a predictive score using clinical variables for suspected HAE patients to increase suspicion of HAE and thus to improve diagnosis.Methods: Hereditary Angioedema Diagnosis Evaluation Score (HADES) used a nationwide retrospective cohort of individuals with suspected HAE in Argentina. A questionnaire was designed to collect relevant clinical information on possible predictors for HAE. Blood samples were analyzed for C1-inhibitor/C1q levels, and C1-inhibitor functional. A predictive score was developed based on the odds ratios derived from multivariate logistic regression analysis. Results: The study included 1642 index cases and 781 family cases. Only patients with confirmed HAE types I and II (n=499) and normal controls (n=1924) were included in the final analysis (acquired angioedema/F12 gene variants were excluded). Eight clinical variables were identified as independent predictors of HAE: age of onset ≤20 years, recurrent limb edema, abdominal pain, vomiting, trauma as a trigger, absence of urticaria, family history of angioedema and recurrent edema lasting ≥24 hours. The predictive score demonstrated favorable performance in identifying HAE cases, with low scores associated with high sensitivity and negative predictive value, and high scores associated with high specificity and positive predictive value. Conclusions: The HADES predictive score offers a simple and efficient method for improving HAE suspicion based on clinical parameters. Further validation studies are required to confirm its reliability and effectiveness.