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  • Title: HEREDITARY ANGIOEDEMA DUE TO C1-INHIBITOR DEFICIENCY IN PEDIATRIC PATIENTS IN CROATIA - FIRST NATIONAL STUDY, DIAGNOSTIC AND PROPHYLACTIC CHALLENGES.
    Author: Karadža-Lapić L, Barešić M, Vrsalović R, Ivković-Jureković I, Sršen S, Prkačin I, Rijavec M, Cikojević D.
    Journal: Acta Clin Croat; 2019 Mar; 58(1):139-146. PubMed ID: 31363336.
    Abstract:
    Hereditary 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.
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