Hereditary angioedema in children

Hereditary angioedema (HAE) is a rare disease characterized by episodes of subcutaneous or submucosal oedema, without urticaria and itching, spontaneously resolving within 1-5 days, resistant to antihistamines and glucocorticosteroids. The average age of development of symptoms is 10 years, and 40% of affected individuals experience their first attack under the age of 5. HAE is most commonly associated with inherited decrease of the concentration of Cl inhibitor (C1 INH) or dysfunction of C1 INH. This activates the complement and causes bradykinin accumulation leading to tissue edema. Diagnosis of HAE includes an interview, the morphological characteristics of swelling and the results of additional tests (concentration and activity of C1 INH, concentration of complement component 4). The final diagnosis requires at least two consistent results of screening tests, the second one should be carried out after the first year of age. Genetic tests can be performed in families with a known mutation. Research on HAE reveal frequent delays in the diagnosis, which have a negative impact on quality of life. At present, 2 preparations used in treatment of HAE in pediatric population are refunded in Poland: concentrate of C1 INH: Berinert (no age restrictions) and recombinant concentrate of C1 INH: Ruconest (from 13 years of age).