Hereditary angioedema in a paediatric patient presenting with abdominal pain and duodenal dilation

SummaryHereditary angioedema (HAE) is a genetic disorder that causes sudden episodes of swelling, often accompanied by abdominal pain. Affecting roughly 1 in 50 000 people, HAE typically appears in childhood. The condition stems from a deficiency or dysfunction of C1-esterase inhibitor (C1-INH), which triggers uncontrolled inflammation. Diagnosis depends on factors level and function. Treatment focuses on managing acute attacks and preventing future episodes using medications such as C1-INH replacement among other options. In this case, a middle childhood boy experienced severe abdominal pain and vomiting. A detailed family history revealed a pattern of HAE among relatives. Lab results confirmed Type 1 HAE. Acute treatment with Berinert was successful, and the patient was later placed on long-term prophylaxis with lanadelumab, which is a monoclonal antibody that inhibits Kallikrein. This case illustrates the importance of considering HAE in children with unexplained abdominal symptoms, particularly in the context of a family history of the condition. Early identification and treatment are essential to managing this life-threatening disorder.