HAE – the disease

Diagnosis is important

Hereditary Angioedema (HAE) is a very rare and potentially life-threatening genetic condition.

HAE 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.

  • icon

    Gene defect – C1 Inhibitor

    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.

  • icon

    Heredity or mutation

    HAE is called hereditary because the genetic defect is passed on in families. A child has a 50 percent chance of inheriting this disease if one of his or her 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. These patients can pass the defective gene to their offspring.

  • icon

    Diagnosis is important

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

    FDA-approved medication for treating the symptoms of HAE became available in the US for the first time in late 2008.

  • icon

    Comprehensive Table of Angioedema Types

    Get the full overview af HAE types in our Comprehensive Table of Angioedema Types.

    Download the table here (pdf)

More HAE related articles that might interest you

HAE Clinical Trials

| Living with HAE, Treatment, What is HAE | No Comments
The US HAEA publishes any clinical trial information provided to us by our pharmaceutical sponsors...

What if I am pregnant?

| Living with HAE, Pregnancy, Treatment, What is HAE | No Comments

Studies report that pregnant women with HAE describe that pregnancy worsened symptoms or symptoms improved…

ACE Inhibitors

| Attack Triggers, Living with HAE, What is HAE | No Comments

ACE Inhibitors have been known to increase the frequency and intensity of HAE attacks. ACE…

24_7_outline

Call us 24/7

(866) 798-5598

The US HAEA Patient Advocates

We are here for you

All Patient Advocates are either patients themselves or caregivers for HAE patients.

We understand what it means to live with HAE and provide a wide range of services to HAE patients and their families.

Take Action

and make a difference

United we are strong and the more we all contribute the stronger and more powerfull we are.

Join the US HAEA Scientific Registry

Become a member of HAEA

Volunteer and make a difference

Become an advocate for HAE

Celebrate hae day :-)

2016 Core Program Support Provided by