HEREDITARY ANGIOEDEMA DUE TO C1-INHIBITOR DEFICIENCY IN PEDIATRIC PATIENTS IN CROATIA - FIRST NATIONAL STUDY, DIAGNOSTIC AND PROPHYLACTIC CHALLENGES.
Acta Clin Croat
; 58(1): 139-146, 2019 Mar.
Article
in En
| MEDLINE
| ID: mdl-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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Complement C1 Inhibitor Protein
/
Angioedemas, Hereditary
Type of study:
Diagnostic_studies
/
Guideline
Limits:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Country/Region as subject:
Europa
Language:
En
Journal:
Acta Clin Croat
Journal subject:
MEDICINA
Year:
2019
Document type:
Article