title: Hereditary angioedema in childhood: a challenging diagnosis you cannot afford to miss.
abstract: Hereditary angioedema (HAE) is a rare inherited disease that is often difficult to diagnose. We report a case of a 9-year-old boy with a spontaneous mutation causing HAE, diagnosed after a life-threatening episode of angioedema of the head and upper respiratory tract after a 5-year history of recurrent skin swellings and abdominal pain leading to several hospital admissions. The aim of this report is to direct focus on this rare disease, which can be treated effectively, to diminish morbidity and mortality of children suffering from undiagnosed HAE.
authors.affiliation: Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
authors.forename: Line
authors.initials: L
authors.lastname: Kjaer
authors.forename: Anette
authors.initials: A
authors.lastname: Bygum
mesh_terms: D054179:Angioedemas, Hereditary / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D002648:Child; D050718:Complement C1 Inhibitor Protein / Q000235:genetics*; D016638:Critical Illness / Q000628:therapy; D057210:Delayed Diagnosis; D004636:Emergency Service, Hospital; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D009154:Mutation; D035583:Rare Diseases; D012008:Recurrence; D018570:Risk Assessment; D014148:Tranexamic Acid / Q000627:therapeutic use
chemical_list: D050718:Complement C1 Inhibitor Protein; D014148:Tranexamic Acid