11/20/2012
Patient is a 74 y/o woman with bouts of angioedema dating back to 2007. Initially episodes were confined to her lips and cheeks. No Ace inhitors involved .C4, C1 inhibitor levels and function all normal. No episodes between 2010 and 11/12/12 when she had an episode of significant tongue and pharyngeal swelling. ER visit-h2 antihistamine and steroids IV -slow resolution. Above labs repeated and still normal. Question 1. How to proceed-genetic testing for factor 12 mutation? 2. Consider Firazyr, recognizing it is not approved for type 3 HAE, if, in fact, this is type 3 HAE vs. idiopathic angioedema. Thanks for your response.

Thank you for your inquiry.

First, I will try to answer your questions specifically and then, since we have previously dealt with this issue on our website on several occasions, I will refer you to the entries which have dealt with the issues you posed in depth.

The only place that I know of in the United States where they have performed the test for “type 3 angioedema” is at National Jewish. Dr. Patricia Giclas is in charge of the complement lab there. The contact information is:

National Jewish Complement Laboratory
Director: Patricia C. Giclas, PhD
Assistant Director: Ashley Frazer-Abel, PhD
Laboratory: 303.398.1541

There has been, of late, a few reports which have cited the effectiveness of drugs normally reserved for hereditary angioedema in patients with the idiopathic form. This of course implies the role of kinins in the production of idiopathic angioedema. The idiopathic form has now, on occasion, been referred to as non-histaminergic angioedema. Icatibant would be one of these agents (1).

As mentioned above, there are several entries posted on our Academy Ask the Expert website which deal with the issues you discussed in more depth. You might be interested in a review of these entries. They can be accessed by going to the Ask the Expert website and typing the word “angioedema” in the search box.

One of these entries in particular will be helpful to you. It is entitled “Recalcitrant angioedema” and was posted on 8/14/2012. In that entry you will find a number of references should you wish to read further in this regard.

Thank you again for your inquiry and we hope this response is helpful to you.

Reference:
1. Annals of Allergy, Asthma, and Immunology 2012; 108(6):460-461.

Sincerely,
Phil Lieberman, M.D.