HEREDITARY ANGIOEDEMA DUE TO C1-INHIBITOR DEFICIENCY IN PEDIATRIC PATIENTS IN CROATIA - FIRST NATIONAL STUDY, DIAGNOSTIC AND PROPHYLACTIC CHALLENGES

• Published in: Acta clinica Croatica (Tisak) Vol. 58; no. 1; pp. 139 - 146
• Main Authors: Karadža-Lapić, Ljerka, Barešić, Marko, Vrsalović, Renata, Ivković-Jureković, Irena, Sršen, Saša, Prkačin, Ingrid, Rijavec, Matija, Cikojević, Draško
• Format: Journal Article
• Language: English
• Published: Croatia Klinicki bolnicki centar Sestre milosrdnice 01.03.2019; Sestre Milosrdnice University Hospital and Institute of Clinical Medical Research, Vinogradska cesta c. 29 Zagreb; Sestre Milosrdnice University hospital, Institute of Clinical Medical Research
• Subjects: Airway obstruction; Angioneurotic edema; Care and treatment; Child; Child health; Children; Complement C1 inhibitor protein; Croatia; Diagnosis; Ecallantide; Genes; Hereditary angioedema types I and II – diagnosis; Icatibant; Medical research; Pediatrics; Preventive medicine; Prophylaxis; Reviews; Skin; Croatia; Hereditary angioedema types I and II – diagnosis; Child; Complement C1 inhibitor protein; Croatia
• ISSN: 0353-9466; 1333-9451
• DOI: 10.20471/acc.2019.58.01.18

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.