Hereditary Angioedema due to C1-Inhibitor Deficiency in Pediatric Patients in Croatia – First National Study, Diagnostic and Prophylactic Challenges (CROSBI ID 277505)
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Podaci o odgovornosti
Karadža-Lapić, Lj ; Barešić, M ; Vrsalović, R ; Ivković-Jureković ; I ; Sršen, S ; Prkačin, I ; Rijavec, M ; Cikojević, Draško
engleski
Hereditary Angioedema due to C1-Inhibitor Deficiency in Pediatric Patients in Croatia – First National Study, Diagnostic and Prophylactic Challenges
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.
Hereditary angioedema types I and II-diagnosis ; complement C1 inhibitor protein ; child ; Croatia
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