Type II hereditary angioedema with an apparently de novo SERPING1 mutation in China: A case report and family screening

Rationale: Type II hereditary angioedema (HAE) is a rare and underrecognized condition. Early diagnosis and family screening are essential to prevent life-threatening attacks. Patient concerns: A 36-year-old woman presented with recurrent facial swelling and dysphagia unresponsive to standard treatments. Diagnoses: Laboratory analysis revealed decreased C4 and low functional C1 inhibitor (C1-INH) activity with normal antigenic levels, confirming type II HAE. Whole-exome sequencing identified a heterozygous SERPING1 mutation, c.1397G > A (p.Arg466His), classified as pathogenic (ClinVar Accession: VCV000003946.13). Three daughters carried the same variant. Interventions: The patient received subcutaneous icatibant for acute management and prophylactic lanadelumab. Her daughters were counseled and provided with emergency medication. Outcomes: Over 7 months of follow-up, the patient remained attack-free without adverse effects. Her daughters were asymptomatic or mildly affected. Lessons: This case emphasizes the need to consider HAE in unexplained recurrent angioedema and demonstrates the clinical utility of genetic testing and family screening. Lanadelumab was effective and well-tolerated for prophylaxis, consistent with current guideline recommendations.