title: Angio-oedema due to hereditary C1 inhibitor deficiency in children.
abstract: 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.
authors.affiliation: 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.
authors.forename: T
authors.initials: T
authors.lastname: Caballero
mesh_terms: D000328:Adult; D054179:Angioedemas, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D002648:Child; D002986:Clinical Trials as Topic; D050718:Complement C1 Inhibitor Protein / Q000627:therapeutic use; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D005767:Gastrointestinal Diseases / Q000175:diagnosis*; D006801:Humans; D012867:Skin / Q000473:pathology*
chemical_list: D050718:Complement C1 Inhibitor Protein