What Is Hereditary Angioedema?
It’s a rare genetic condition that causes swelling under the skin. It can happen in different parts of your body
You are born with hereditary angioedema (HAE). Although you’ll always have it, treatment helps you manage it.
There have been big improvements in therapies, and researchers continue to look for new solutions.
Symptoms usually show up in childhood and get worse during the teen years. Many people don't know HAE is causing their swelling until they're adults.
With this disease, a certain protein in your body is not in balance. This causes tiny blood vessels to push fluid into nearby areas of your body. That leads to sudden swelling.
Where you have it, how often the bouts happen, and how strong they are is different for everyone. The attacks can come and go as well as move to different spots during the same bout.
Your throat can swell. That can cut off your airway, which is life-threatening. So if you know you have HAE and you feel any change like that, call 911 right away.
Without treatment, you can have attacks as often as every 1 to 2 weeks, and they can be hard to manage.
Causes
A problem with a gene that controls a blood protein called C1 inhibitor often causes HAE. In most cases, you don’t have enough of this protein. In others, you have normal levels but it doesn't work right.
If one of your parents has HAE, you have a 50% chance of having it, too. But sometimes the gene change happens for unknown reasons. If you have the broken gene, you can pass it on to your children.
Symptoms
The main symptom is swelling. You won’t have the itching that people often get with allergic reactions. A bout may last 2 to 5 days.
It can happen in different parts of the body
Mouth or throat
Hands
Feet
Face
Genitals
Belly
Swelling in the throat is the most dangerous symptom.
Puffiness in the feet and hands can be painful and make it hard to go about your daily life.
Swelling in your belly can cause
Extreme pain
Nausea
Vomiting
Diarrhea
You may notice early warning signs before swelling begins. These may include
Extreme fatigue
Muscle aches
Tingling
Headache
Belly pain
Hoarseness
Mood changes
Triggers
Although you may not be able to tell what your triggers are, common ones include
Stress or anxiety
Minor injury or surgery
Illnesses such as colds or flu
Physical activities such as typing, hammering, or pushing a lawn mower
Medications, including some used for high blood pressure and congestive heart failure
Women may notice a difference in the number or sharpness of attacks when they
Have their period
Are pregnant. For some women, it doesn't happen as often when they’re pregnant, but then the attacks come back after they give birth.
Use birth control or hormone replacement therapy containing estrogen. Women usually say they have more and worse attacks while on these drugs.
Getting a Diagnosis
If you've had symptoms of HAE, your doctor may ask
What changes have you noticed?
Where have you had swelling? How often and where?
Any in your face, neck, tongue, or throat?
Have you noticed any changes that happen before swelling begins?
Have you had any stomach problems or stomach surgery?
Does anyone in your family have a problem with swelling?
Have you or anyone in your family been treated for allergies? Tell me about it.
The right diagnosis is key. Sometimes people are treated for allergies when it's really HAE that causes their swelling. Antihistamines and corticosteroids that treat allergies don’t work well for this disease.
You can have severe stomach cramps, and if misdiagnosed, it can lead to surgery you don't need.
Your doctor will do a physical exam. You'll need a blood test, too, to confirm that it’s HAE.
If you do have it, ask your doctor to refer you to a specialist familiar with the condition. You should also ask your doctor about having the rest of your family tested, even if no one has symptoms.
Questions for Your Doctor
Do I need more tests?
What can I expect from this condition?
What treatments do you recommend? What are their side effects?
What should I do if my throat swells at some point? How likely is that?
How can I find out what triggers my attacks?
Will I pass this condition on to my children?
Should my family get tested for HAE?
Will this affect my plans to have a family?
Treatment
Doctors use a medicine called C1 esterase inhibitor (Cinryze) to prevent attacks. It's injected into your veins. You can learn to give yourself this at home.
Others medications treat attacks when they're under way
The C1 esterase inhibitors Berinert and Ruconest are also injections given into your veins.
Ecallantide (Kalbitor) is injected under the skin in a doctor's office or at home by a trained nurse.
Icatibant (Firazyr) is injected under the skin. You can give yourself this shot at home.
You may also need oxygen or IV fluids to ease your symptoms.
Your doctor will make recommendations for what you need.
Taking Care of Yourself
Learn as much as you can about HAE so you can make informed decisions about your treatment.
If you can figure out your triggers, you can better avoid them. It helps to track your attacks and symptoms in a journal and look for patterns.
Talk to your doctor before you have any dental work. He may want you to take medication to avoid a flare. Also talk with your doctor before you take any new prescription medicines. There is a chance they could trigger an attack.
Carry your medical information with you at all times.
If your child has HAE, note any changes in behavior that you see before an attack. As he gets older, he'll need to learn his triggers and treatment needs.
Make sure all caregivers and family members know about the condition and what to do if an attack happens.
Remember: Any swelling in the throat is an emergency. Take your medication for attacks, and seek medical treatment right away.
Connect with others who are living with HAE. They can share their insights and tips to help you manage your symptoms.
What to Expect
There's no cure for HAE, but new treatments have made it possible for people to manage their symptoms and enjoy active lives.
