Enacted and internalised stigma and perceived discrimination in hereditary angioedema due to C1-inhibitor deficiency: A pilot study

Stigma and perceived discrimination are understudied psychosocial components in hereditary angioedema due to C1-inhibitor deficiency (HAE-C1INH). This cross-sectional pilot study assessed stigma and perceived discrimination in 20 HAE-C1INH patients, comparing those with (HAE A+) and without (HAE A-) attacks. Stigma scores above the normative mean were observed in 65% of patients. The HAE A+ group reported significantly higher stigma than HAE A- ( p = .04, r = 0.46), while perceived discrimination did not differ between groups. Stigma was significantly associated with worse quality of life (QoL), poorer disease control, and higher attack frequency; perceived discrimination showed no significant associations with clinical outcomes. However, these results should be interpreted in light of the study's primary limitations, including the cross-sectional design, the small sample size, the absence of formal linguistic validation of the instruments used, and the multiple comparisons performed without alpha correction, all of which preclude causal inference and limit the generalisability of the results. These findings suggest that stigma in HAE-C1INH patients is closely tied to disease activity, while perceived discrimination, though comparable across groups, follows distinct attribution patterns, pointing to shame and fear of social judgment as priority targets for psychosocial intervention.