Naslov
Hereditary Angioedema due to C1-Inhibitor Deficiency in Pediatric Patients in Croatia – First National Study, Diagnostic and Prophylactic Challenges

Autori
Karadža-Lapić, Lj ; Barešić, M ; Vrsalović, R ; Ivković-Jureković ; I ; Sršen, S ; Prkačin, I ; Rijavec, M ; Cikojević, Draško

Izvornik
Acta clinica Croatica (0353-9466) 58 (2019); 139-146

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Hereditary angioedema types I and II-diagnosis ; complement C1 inhibitor protein ; child ; Croatia

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA