A: HAE is a rare genetic disorder.
It can cause sudden attacks of intense, sometimes painful swelling anywhere in the body, but the most common locations include the face, hands, feet, genitals, abdomen and throat.
It's important to remember that an HAE attack that affects the throat is potentially life-threatening, because it puts you at risk of suffocation. Make sure you have a plan in place for this type of attack and seek emergency care as soon as possible.
A: HAE is a rare genetic disorder. In fact, it's thought that only 1 in 10,000 to 1 in 50,000 people in the entire world have HAE. But if you have HAE, you aren't alone
A: Yes. Because HAE is rare, getting an accurate diagnosis can be challenging. In fact, the average person with HAE searches for approximately 10 years before receiving a diagnosis, and one survey showed that up to 65% of people with HAE have been misdiagnosed.
A: Most people with HAE either don’t have enough of a protein called C1-esterase inhibitor or the protein they have doesn’t work the way it should. When there isn't enough C1-esterase inhibitor or it isn't working properly, it initiates episodes of swelling.
Though it's not always the case, 75% of HAE cases are passed down through families. The other 25% develop HAE because of a spontaneous change in their genetic code, so family history can't always help with diagnosis.
A: Because HAE is rare, few people know about it, including doctors. If you think there is a chance you have HAE, fill out the Symptom Profiler and take it with you to your doctor. It can help you and your doctor determine whether you should have your blood tested for HAE.
A: Finding a doctor who has experience diagnosing and helping patients manage HAE can be challenging. The US Hereditary Angioedema Association (HAEA) provides an online tool that can help you find a doctor who treats HAE.
A: HAE is a genetic disorder that can be passed on from parent to child. If you have HAE, there is a 50% chance you will pass it on to your child.
A: HAE can cause sudden attacks of intense, sometimes painful swelling anywhere in the body, but the most common locations include the face, hands, feet, genitals, abdomen and throat.
Usually, swelling in the skin occurs without hives or itchiness. An attack in the abdomen can cause mild to severe pain and be accompanied by vomiting and/or diarrhea.
Swelling in the throat, or a laryngeal attack, happens less frequently than skin or abdominal attacks but is the most serious. Swelling in the throat can become life threatening, because it can lead to suffocation. If you have a throat attack, you should seek emergency care right away.
HAE symptoms vary greatly from person to person. That means one HAE patient's symptoms could be very different from someone else who has HAE. HAE symptoms can also change within the same person. For instance, the frequency of attacks might increase as a patient enters adolescence.
A: Although triggers can be different for everyone with HAE, some common triggers include:
- Emotional stress
- Illness or infection
- Hormonal influences, like menstruation or using a contraceptive containing estrogen
- Mechanical pressure from physical activities, like mowing the lawn or using scissors
HAE attacks can also happen without warning or an obvious trigger. That can make it difficult to predict when an attack is coming, so it’s always important to have a plan in place in case of an emergency.
A: Some people experience a tingling sensation in the affected area. It's also not uncommon for people to get a rash before the swelling begins. Please keep in mind that an HAE attack can also happen without warning, so you should always be prepared in case of an emergency.
A: HAE affects both men and women, but their experiences may be very different. For instance, women seem to be affected more severely by HAE than men. Fluctuations in the female sex hormones (including estrogen) can have an influence on HAE symptoms. As a result many women experience changes in the severity and frequency of their HAE attacks during various life stages such as childhood, puberty, pregnancies and menopause.
A: Although there is currently no cure for HAE, there are treatment options available. Preventative treatment involves taking medicine on a regular basis to prevent or reduce the frequency and severity of HAE attacks. On-demand treatment is medicine you take to treat the symptoms of an HAE attack.
If you're considering treatment for HAE, it's important that you work closely with your doctor to develop a plan that's right for you and your specific situation.
A: Although there is no cure for HAE, there are treatment options that can help prevent or reduce the frequency and severity of HAE attacks. This involves taking medicine on a regular basis. Talk to your doctor about a treatment plan that’s right for you.
A: On-demand therapy is treatment you take when you are having an HAE attack to treat the symptoms of the attack. HAE treatment experts recommend that HAE patients have access to on-demand therapy. Talk to your doctor about a treatment plan that's right for you.
A: When you live with a rare disease, it can be difficult to meet other people who know what you're going through from firsthand experience. Fortunately, there are several ways you can get involved in the HAE community. Here are just a few:
A: There are several organizations and advocacy groups that offer a range of resources for people living with rare diseases, including HAE. Get started by exploring the resources we provide on DiscoverHAE.com and checking out the US Hereditary Angioedema Association (HAEA) at HAEA.org.
The HAEA is a nonprofit patient advocacy organization dedicated to serving people with angioedema. They provide patients and their families with a support network and a wide range of services. The HAEA's mission is to:
- Increase HAE awareness and education
- Help people obtain an accurate HAE diagnosis
- Facilitate patient access to therapy
- Foster groundbreaking research that includes finding a cure