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Hereditary Angioedema in Childhood: A Challenging Diagnosis You Cannot Afford to Miss
Author(s) -
Kjær Line,
Bygum Anette
Publication year - 2012
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2011.01675.x
Subject(s) - hereditary angioedema , medicine , angioedema , disease , pediatrics , c1 inhibitor , rare disease , abdominal pain , family history , dermatology , surgery
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.