What is HAE?2019-02-21T17:05:14+00:00

WHAT IS HAE?

Hereditary angioedema (HAE) is a very rare and potentially life-threatening genetic condition that occurs in about 1 in 10,000 to 1 in 50,000 people.

HAE symptoms include episodes of edema (swelling) in various body parts including the hands, feet, face and airway. In addition, patients often have bouts of excruciating abdominal pain, nausea and vomiting that is caused by swelling in the intestinal wall. Airway swelling is particularly dangerous and can lead to death by asphyxiation.

HAE patients have a defect in the gene that controls a blood protein called C1 Inhibitor. The genetic defect results in production of either inadequate or non-functioning C1-Inhibitor protein.

Normal C1-Inhibitor helps to regulate the complex biochemical interactions of blood-based systems involved in disease fighting, inflammatory response and coagulation.

Because defective C1-Inhibitor does not adequately perform its regulatory function, a biochemical imbalance can occur and produce unwanted peptides that induce the capillaries to release fluids into surrounding tissue, thereby causing edema.

It runs in the family

HAE is called hereditary because the genetic defect is passed on in families.

A child has a 50 percent possibility of inheriting this disease if one of the parents has it. The absence of family history does not rule out the HAE diagnosis, however.

Scientists report that as many as 20 percent of HAE cases result from patients who had a spontaneous mutation of the C1-Inhibitor gene at conception. Consequently, these patients can pass the defective gene to their offspring.

Because the disease is very rare, it is not uncommon for patients to remain undiagnosed for many years.

A large number of patients report that their frequent and severe abdominal pain was inappropriately diagnosed as psychosomatic, resulting in referral for psychiatric evaluation.

Unnecessary exploratory surgery has been performed on patients experiencing gastrointestinal edema, because abdominal HAE attacks mimic a surgical abdomen.

Before therapy became available, the mortality rate for airway obstruction was reportedly as high as 30 percent.

“We are blessed with a global community of advocates who work diligently on education, awareness, and access to life saving therapy.”

Anthony J. Castaldo, President & Chief Executive Officer, HAEi

“There is strength in numbers, and the prospect for continued research into better HAE treatments motivates us to accelerate our efforts to help patients and physicians in all parts of the world to start HAE groups in their home countries.”

Anthony J. Castaldo, President & Chief Executive Officer, HAEi

HAE related topics that might interest you

Global Access Program

Helping to change the lives of patients with hereditary angioedema (HAE) with a medication access program

Global Perspectives

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

HAEi Connect Member database

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

Regional Patient Advocates

Constantly strive to improve the situation for HAE friends all over the world – no matter how they are organized

Stay tuned – sign up for our newsletter

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

Click here to sign up

HAE Global Conference 2018

This 4th HAE conference was record breaking: A total of 736 patients and care givers participated from no less than 57 countries

HAEi hosted websites

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