Delayed diagnosis of hereditary angioedema in the setting of Prader-Willi syndrome

Abstract

Hereditary angioedema (HAE) is a rare and potentially life-threatening disorder, with a prevalence of approximately 1:60,000.1,2 It is first suspected on the basis of certain clinical factors such as recurrent angioedema and severe and remitting abdominal pain. The diagnosis of HAE has notoriously been delayed owing to initial misdiagnoses. A study by Schöffl et al determined the median age of symptom onset was 6.5 years, with a median age of correct diagnosis of 21 years, showing a 15-year delay in diagnosis.