DIAGNOSIS

How is HAE diagnosed?

Most cases of angioedema turn out to not be HAE, because most swelling attacks are typically allergic reactions or swellings caused by something other than C1-inhibitor deficiency. Laboratory analysis of blood samples or genetic testing is required to establish the HAE diagnosis. There are three specific blood tests that confirm HAE:

  1. C1-inhibitor quantitative (antigenic)
  2. C1-inhibitor functional
  3. C4

The most common form of the disease – Type I – is characterized by low quantitative levels of C1-inhibitor and affects about 85 percent of patients. Type II HAE affects the other 15 percent of patients who have normal or elevated levels of C1-inhibitor, but the protein does not function properly.

Several investigators have noted a familial (and therefore inherited) angioedema in patients with normal levels of C1-inhibitor. Now found under the designation of “HAE with Normal C1 Inhibitor”, this form of angioedema is yet to be fully understood. In women, swellings have been correlated with pregnancy or the use of oral contraceptives; however, affected male family members have also been identified. Some scientists believe that a mutation in the gene for human coagulation Factor XII may be a potential cause of swelling in these patients with familial estrogen-exacerbated angioedema.

At what age does HAE attacks start?

The age of HAE onset varies considerably, however, in one study, half of the patients reported onset of their symptoms by the age of seven, and over two-thirds became symptomatic by the age of thirteen. There also seems to be an increased frequency of attacks during puberty or adolescence.

Webinar: HAE normal C1 inhibitor

Dr. Marc Riedl from the US Angioedema Center in San Diego gives an update on diagnosis and treatment of HAE with normal C1 inhibitor. May 2021.

Support family testing

If you are diagnosed with HAE, please make sure that other family members are tested.

Find our “Support Family Testing” material in the HAEi Resource Center.

HAE related topics that might interest you

Global Perspectives

Magazine with timely information on the issues, activities, and events that are relevant to the global HAE community

HAEi Advocacy Academy

Courses, advocacy training, and tools to support people living with HAE and becoming an HAE advocate

HAEi Connect Member database

Free, secure online membership database and communications platform for HAEi’s member organizations

HAE Companion app

Access to HAEi’s emergency card in many languages and ACARE Centers, HAE knowledgeable hospitals and physicians

Stay tuned – sign up for our newsletter

BE THE FIRST TO KNOW ABOUT HAE NEWS, TREATMENTS, EVENTS AND RELATED TOPICS

HAEi hosted websites

Hosting of your national website or help for you to create a new website – naturally all in your native language

HAE TrackR app

Easy-to-use electronic diary of HAE treatments (preventative and on-demand), HAE attacks, and the impact HAE has on life