title: Pediatric Hereditary Angioedema: Onset, Diagnostic Delay, and Disease Severity.
abstract: Hereditary angioedema (HAE) typically presents in childhood. Large gaps remain in our understanding of the natural history of HAE during childhood. We examined age of onset, delay in diagnosis, androgen exposure, and their influence on ultimate disease severity in a large cohort of patients with HAE. Median age of first swelling was 11 years with a median age at diagnosis of 19 years. Earlier onset of symptoms correlated with longer delays in diagnosis (P < .001) and predicted a more severe disease course, including increased number of attacks per year (P = .0009) and hospital admissions (P = .009). Earlier age of onset also significantly correlated with increased perceived HAE severity (P = .0002), negative overall life impact (P < .0001), and use of anabolic androgen. Our observations highlight the importance of early HAE diagnosis and suggest the necessity of a disease management plan once the diagnosis has been made.
authors.affiliation: Department of Medicine, University of California, San Diego, CA, USA.
authors.forename: Sandra C
authors.initials: SC
authors.lastname: Christiansen
authors.affiliation: United States Hereditary Angioedema Association, Honolulu, HI, USA.
authors.forename: Donna K
authors.initials: DK
authors.lastname: Davis
authors.affiliation: United States Hereditary Angioedema Association, Honolulu, HI, USA.
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Castaldo
authors.affiliation: Department of Medicine, University of California, San Diego, CA, USA Department of Medicine, San Diego VA Medical Center, USA bzuraw@ucsd.edu.
authors.forename: Bruce L
authors.initials: BL
authors.lastname: Zuraw
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D054179:Angioedemas, Hereditary / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D057210:Delayed Diagnosis / Q000706:statistics & numerical data*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012720:Severity of Illness Index; D055815:Young Adult
keywords: C1 inhibitor; children; diagnosis; hereditary angioedema; pediatric; severity