HAE Basics

Hereditary Angioedema (HAE) is characterized by either a missing or malfunctioning blood protein called C-1 esterace inhibitor. If you think of mast cells in your immune system as those gel fish oil pills, the C-1 esterace inhibitor is the gel coating that keeps all the gunk inside from leaking out.

What does that mean?  HAE makes you swell.  A patient with HAE can have swelling in the facial features, hands, feet, GI tract, genital area.  For some pictures of how this affects people, go to www.haea.org.

HAE is divided into three basic types:

HAE I – blood tests show that the patient has low levels of the C-1 esterase inhibitor.

HAE II – blood tests show that the patient has acceptable levels of the C-1 esterase inhibitor, but the functionality is low to non-existent.

HAE III – blood tests show that the level and function of the protein is in the acceptable ranges, but the patient exhibits the same signs and symptoms as someone with Type I or Type II. Because there seems to be no biological basis (although the functional tests are not perfect), this is referred to Idiopathic Angioedema (idiopathic is medical speak for “we don’t have any bloody clue what causes this.”)

The “gold standard” for treating this disease is an infusion of C1 inhibitor.  This treatment became available in the United States in early 2009.

Other treatments include androgen steroid therapy, fresh frozen plasma infusions, and pain treatment.