PMID- 22417938 OWN - NLM STAT- MEDLINE DCOM- 20150615 LR - 20141013 IS - 1578-1267 (Electronic) IS - 0301-0546 (Linking) VI - 41 IP - 1 DP - 2013 Jan-Feb TI - Angio-oedema due to hereditary C1 inhibitor deficiency in children. PG - 45-53 LID - S0301-0546(12)00040-7 [pii] LID - 10.1016/j.aller.2012.01.002 [doi] AB - Hereditary angio-oedema due to C1 inhibitor deficiency (HAE-C1-INH) is a rare inherited disorder characterised by recurring and debilitating episodes of cutaneous swelling and abdominal pain and less frequent episodes of laryngeal oedema. Symptom onset is usually in childhood and early adolescence, with earlier disease onset associated with greater disease severity. Although HAE-C1-INH attacks are generally less frequent and less severe in children than in adults, they can cause significant physical and psychological impairment and affect advancement in school. There are often significant delays in the diagnosis of HAE-C1-INH due to its variable clinical presentation and because abdominal symptoms can often mimic other common paediatric gastrointestinal disorders. In recent years, several disease-specific agents have become available for the acute and prophylactic treatment of HAE-C1-INH. Although these treatments have not been evaluated rigorously in controlled clinical trials in children with HAE-C1-INH, paediatric data on efficacy and safety are available for some agents. Early diagnosis and initiation of appropriate therapy in children with HAE-C1-INH can help reduce the burden of this illness in the paediatric population. CI - Copyright (c) 2011 SEICAP. Published by Elsevier Espana. All rights reserved. FAU - Caballero, T AU - Caballero T AD - Servicio de Alergia, Hospital La Paz Health Research Institute (IdiPaz), Biomedical Research Network on Rare diseases-U754 (CIBERER), Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain. Electronic address: mteresa.caballero@idipaz.es. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Review DEP - 20120313 PL - Singapore TA - Allergol Immunopathol (Madr) JT - Allergologia et immunopathologia JID - 0370073 RN - 0 (Complement C1 Inhibitor Protein) SB - IM MH - Adult MH - Angioedemas, Hereditary/*diagnosis/genetics/therapy MH - Child MH - Clinical Trials as Topic MH - Complement C1 Inhibitor Protein/therapeutic use MH - Delayed Diagnosis MH - Diagnosis, Differential MH - Gastrointestinal Diseases/*diagnosis MH - Humans MH - Skin/*pathology OTO - NOTNLM OT - Angio-oedema OT - C1 inhibitor deficiency OT - C1-inhibitor OT - Children OT - Diagnosis OT - Hereditary angio-oedema OT - Treatment EDAT- 2012/03/16 06:00 MHDA- 2015/06/16 06:00 CRDT- 2012/03/16 06:00 PHST- 2011/11/08 00:00 [received] PHST- 2011/12/29 00:00 [revised] PHST- 2012/01/02 00:00 [accepted] PHST- 2012/03/16 06:00 [entrez] PHST- 2012/03/16 06:00 [pubmed] PHST- 2015/06/16 06:00 [medline] AID - S0301-0546(12)00040-7 [pii] AID - 10.1016/j.aller.2012.01.002 [doi] PST - ppublish SO - Allergol Immunopathol (Madr). 2013 Jan-Feb;41(1):45-53. doi: 10.1016/j.aller.2012.01.002. Epub 2012 Mar 13.