Early presentation of clinical hereditary angioedema symptoms in an infant

Background Timely diagnosis of hereditary angioedema (HAE) is challenging in children. The barriers include lack of awareness of HAE, communication difficulties, diagnostic testing limitations, and broad differential diagnoses for symptoms of HAE. Consequently, there has been no definitive study on the age of onset of symptoms of HAE in children. This lack of awareness can result in reduced quality of life due to suboptimal treatment of symptoms, significant delay in diagnosis, and/or misdiagnosis, which can result in unnecessary tests, treatments, and procedures. Current literature suggests that the mean age of onset is in the second decade of life, which is worsened by puberty, estrogen containing contraception, or estrogen hormone replacement therapy, but symptoms can also be present under one year. Here we present a case report of an infant not previously diagnosed with clinical symptoms of HAE but born from a mother with type I HAE.