Hereditary Angioedema

Excerpt

Hereditary angioedema (HAE) is an autosomal dominant disease caused by the lack of or a dysfunctional C1-inhibitor protein. For this reason, the nomenclature has been developed to replace the initial use of type 1, 2, or 3 HAE. Instead, the names are HAE with deficient C1-inhibitor (type 1), HAE with dysfunctional C1-inhibitor (type 2), and HAE with normal C1-inhibitor. Though unique in the testing that leads to the diagnosis, they all behave similarly with angioedema. The following discussion focuses on type 1 and 2 HAE. Secondary to a lack of diagnostic tests for most case of HAE with normal C1-inhibitor, multiple different variants, and lack of FDA approved therapy, HAE with normal C1-inhibitor is not included below.