%0 Journal Article
%T HEREDITARY ANGIOEDEMA DUE TO C1-INHIBITOR DEFICIENCY IN PEDIATRIC PATIENTS IN CROATIA ¨C FIRST NATIONAL STUDY, DIAGNOSTIC AND PROPHYLACTIC CHALLENGES
%A Dra£¿ko Cikojevi£¿
%A Ingrid Prka£¿in
%A Irena Ivkovi£¿-Jurekovi£¿
%A Ljerka Karad£¿a-Lapi£¿
%A Marko Bare£¿i£¿
%A Matija Rijavec
%A Renata Vrsalovi£¿
%A Sa£¿a Sr£¿en
%J Archive of "Acta Clinica Croatica".
%D 2019
%R 10.20471/acc.2019.58.01.18
%X 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
%K Hereditary angioedema types I and II ¨C diagnosis
%K Complement C1 inhibitor protein
%K Child
%K Croatia
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629194/