Fig. 5.

Impact of causal variant types on HAE phenotype. HAE Patients were classified into different groups based on their specific causal variant types: HAE-2 variants causing damage to the active center of SERPING1, other missense variants, and null variants preventing C1 inhibitor formation. The primary objective was to investigate the impact of these variant types on various phenotypic characteristics. a The impact of causal variant type on age of HAE onset was analyzed in 26, 32, and 109 patients from HAE-2, missense and null groups, respectively. Analysis showed no significant association in relation to the HAE-2 group. However, null variants in patients were significantly associated with lower age of HAE onset compared to those with the missense variant (Kruskal–Wallis; p = 0.023). b The impact of causal variant type on HAE attack frequency was analyzed in 27, 34, and 108 patients from HAE-2, missense, and null groups, respectively. Analysis revealed no significant associations. c The impact of causal variant type on clinical severity score [28] was analyzed in 20, 31, and 79 patients from HAE-2, missense, and null groups, respectively. No significant association was found