Hereditary angioedema due to C1-inhibitor deficiency in pediatric patients in Croatia : first national study, diagnostic and prophylactic challengesKaradža-Lapić, Ljerka (Avtor) Barešić, Marko (Avtor) Vrsalović, Renata (Avtor) Ivković-Jureković, Irena (Avtor) Sršen, Saša (Avtor) Prkačin, Ingrid (Avtor) Rijavec, Matija (Avtor) Cikojević, Draško (Avtor) hereditary angioedemas -- genetics -- Croatiainborn genetic diseases -- Croatiapediatrics -- CroatiaC1 inhibitorSERPING1 genechildrenHereditary angioedema (HAE) is a rare autosomal dominant disease with deficiency (type I) or dysfunction (type II) of C1 inhibitor, caused by mutations in the C1-INH gene, characterized by recurrent submucosal or subcutaneous edemas including skin swelling, abdominal pain and life-threatening episodes of upper airway obstruction. The aim of this study was to investigate healthcare experiences in children with HAE due to C1 inhibitor deficiency (C1-INH-HAE) in Croatia in order to estimate the number of affected children and to recommend management protocols for diagnosis, short-term prophylaxis and acute treatment. Patients were recruited during a 4-year period at five hospitals in Croatia. Complement testing was performed in patients with a positive family history. This pilot study revealed nine pediatric patients positive for C1-INH- HAE type I, aged 1-16 years, four of them asymptomatic. Before the age of one year, C1-INH levels may be lower than in adults; it is advisable to confirm C1-INH-HAE after the age of one year. Plasma-derived C1- INH is recommended as acute and short-term prophylactic treatment. Recombinant C1-INH and icatibant are licensed for the acute treatment of pediatric patients. In Croatia, HAE is still underdiagnosed in pediatric population.Sestre milosrdnice University Hospital20192020-12-16 17:23:17Neznano12913UDK: 616.1ISSN pri članku: 1333-9451DOI: 10.20471/acc.2019.58.01.18COBISS_ID: 2048524657OceCobissID: 6272831sl