Hereditary angioedema due to C1-inhibitor deficiency in pediatric patients in Croatia

first national study, diagnostic and prophylactic challenges

Ljerka Karadža-Lapić (Author), Marko Barešić (Author), Renata Vrsalović (Author), Irena Ivković-Jureković (Author), Saša Sršen (Author), Ingrid Prkačin (Author), Matija Rijavec (Author), Draško Cikojević (Author)

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.

Keywords

C1 inhibitor;SERPING1 gene;children;

Data

Language:	English
Year of publishing:	2019
Typology:	1.02 - Review Article
Publisher:	Sestre milosrdnice University Hospital
UDC:	616.1
COBISS:	2048524657
ISSN:	1333-9451
Views:	784
Downloads:	542
Average score:	0 (0 votes)
Metadata:

Other data

Secondary language:	Croatian
Secondary title:	Hereditarni angioedem uzrokovan manjkom C1-inhibitora u pediatrijskih bolesnika u Hrvatskoj - prvo nacionalno istraživanje, dijagnostički i profilaktički izazovi
Secondary abstract:	Hereditarni angioedem (HAE) je rijetka autosomno dominantna bolest nastala zbog mutacije gena SERPING1 za inhibitor plazmatskog proteina C1 (C1-INH). Uslijed manjka C1 inhibitora (tip I) ili njegove disfunkcionalnosti (tip II) dolazi do okidačem potaknute autoaktivacije C1-komponente komplementa i cijele kaskade koja dovodi do submukoznih ili subkutanih iznenadnih pojava oteklina kože, lica, kapaka, usana ili grla te abdominalnih bolova praćenih povraćanjem i dehidracijom. U najtežim slučajevima uslijed edema glotisa može doći do gušenja. Cilj ovoga istraživanja bila je procjena ukupnog broja djece s HAE zbog nedostatka C1 inhibitora (C1-INH-HAE) u Hrvatskoj kako bi se preporučili i provodili ujednačeni protokoli za dijagnozu, kratkotrajnu profilaksu i akutno liječenje. Pedijatrijski bolesnici su uključivani u istraživanje tijekom 4 godine u pet bolnica u Hrvatskoj. Svima s pozitivnom obiteljskom anamnezom na HAE analizirana je razina komplementa i C1 inhibitora. Probno istraživanje je otkrilo devet bolesnika pedijatrijske populacije u dobi od 1-16 godina koji su pozitivni za CI-INH-HAE tip I, od kojih su 4 bili asimptomatski. U slučaju akutnog napadaja HAE kao i za profilaktičnu primjenu preporuča se primjena pdC1-INH (humani inhibitor C1 esteraze). Također, rekombinantni C1-INH i ikatibant indicirani su za akutno liječenje pedijatrijskih bolesnika. U Hrvatskoj HAE je još uvijek nedovoljno dijagnosticiran u pedijatrijskoj populaciji.
Secondary keywords:	inhibitor C1;gen SERPING1;otroci;Angioedemas, hereditary;Genetics;Croatia;Genetic diseases, inborn;Pediatrics;Hereditarni angioedemi;Genetika;Hrvaška;Prirojene genetske bolezni;Pediatrija;
Source comment:	Soavtor iz Slovenije: Matija Rijavec; Nasl. z nasl. zaslona; Opis vira z dne 2. 8. 2019; Prispevek v angl., dodatna vsebina v hrv.;
Pages:	str. 139-146
Volume:	ǂVol. ǂ58
Issue:	ǂno. ǂ1
Chronology:	2019
DOI:	10.20471/acc.2019.58.01.18
ID:	12267615