Summary: Hereditary angioedema is a rare disease characterized by episodes of non-inflammatory subcutaneous or submucosal oedema without signs of urticaria. HAE is associated with inherited deficiency or dysfunction of C1 inhibitor. An overshooting local increase in bradykinin concentration induces angioedema attacks, which manifest as acute abdominal pain and facial, laryngeal or peripheral swellings.
One characteristic feature of HAE is therapeutic resistance to antihistamines, glucocorticosteroids or adrenaline. HAE is a disabling and potentially life-threatening disease. Considering its infrequency and apparent similarity to other diseases, HAE raises considerable diagnostic problems. In this article we want to discuss, in a brief and simple way, the clinical symptoms and proper diagnostic and therapeutic approach in regard to the latest clinical guidelines, especially in pediatric patients.