A single-centre retrospective study on the clinical characteristics of patients with hereditary angioedema and the therapeutic effect of lanadelumab.

Background: Hereditary angioedema (HAE) is a rare monogenic disease, and there are few reports on its clinical characteristics, particularly its drug efficacy, in China. The objective of this study was to gain insight into the clinical characteristics of HAE in Chinese patients, and the efficacy and safety of prophylactic treatment with lanadelumab.

Results: The cohort included 22 patients with a median age of 35.0 years (IQR: 27.0-48.3 years). The male-to-female ratio was 1:1.75. The median age at onset was 15.5 years (IQR: 10.0-21.3 years), with a median diagnostic delay of 18.5 years. A significant positive correlation was found between patient age and the duration of diagnostic delay (r = 0.750; p = 0.000). In the cohort, 18 patients (81.8%) had Type I HAE, whereas 4 patients (18.2%) had Type II HAE. The average monthly frequency of attacks was 1.0 (IQR: 0.3, 1.3). Ten patients (45.5%) experienced onset following minor trauma/local bumps/pressure/heat exposure, which was the most common precipitating factor; 7 patients (31.8%) experienced spontaneous onset without apparent precipitating factors. A family history was reported for 16 patients (72.7%). Six patients (27.3%) had concomitant diseases involving various positive autoantibodies or confirmed autoimmune diseases. Eleven patients (50.0%) in this cohort were either currently receiving or had previously received lanadelumab treatment, with a median treatment duration of 7 months (IQR: 3-10 months). Nine patients reached the steady-state period of treatment (> 70 days). Eight patients experienced no oedema attack during treatment. There was a significant reduction in the frequency of attacks and a significant improvement in quality of life by Day 30 (D30) posttreatment, with a decrease of 91.5% in the average monthly frequency of attacks. The average monthly frequency of attacks decreased by 94.6% and 96.2% after 3 months of treatment and at the time of the last injection, respectively, with no life-threatening laryngeal oedema attacks. Only 5 patients (45.5%) experienced local adverse reactions during treatment, and no severe adverse reactions were reported.

Conclusion: (1) The median age at onset, diagnostic delay, and precipitating factors in this cohort were consistent with previously reported data from domestic studies. However, the proportion of Type 2 patients was greater than that in prior domestic reports, and a trend towards earlier diagnosis in younger patients was observed; notably, this cohort identified a high proportion (27.3%) of patients with positive autoantibodies or confirmed autoimmune diseases for the first time in China. (2) After treatment with lanadelumab, patients experienced significant improvements in symptoms, quality of life, and anxiety/depression levels. Symptom control was achieved by D30 prior to the drug steady state-period and was maintained throughout the entire treatment period. No serious adverse reactions were observed during the treatment, indicating a high safety profile for the medication.

Trial registration: Chinese Clinical Trial Registry, ChiCTR2500098307, 2025/03/05.