Hereditary angioedema – as Recurrent Allergic Manifestation

Abstract

Background
A 13 years old female child presented with complains of breathing difficulty with concurrent swelling of whole face and neck region. This presentation was preceded by mild trauma over lips only one day back. The injury was quite innocuous in nature. There was history of similar episodes in family. Family pedigree chart shows similar episodes in grandfather, uncle and two sisters of her father. She is only one affected out of four sisters in her family. Her father died with same problem 12 years back. Her C1-INH was assessed quantitatively and functionally. Her C1 esterase inhibitor (C1-INH) level is normal in quantification assay but significantly below normal functionally. The case was diagnosed as a case of Hereditary angioedema disguising as recurrent allergic manifestations leading to anaphylactic reaction like feature. This condition does not respond to classical antihistaminics or steroids. This presentation further highlights significance of consideration of above mentioned condition in patient reporting for repeated allergic and anaphylactic reactions.