Hereditary angioedema (HAE) is a rare genetic disorder that causes swelling in different parts of the body. These attacks are often painful, unpredictable, and disfiguring. They can interfere with your everyday life and, in some cases, can cause a medical emergency.
It's important to recognize the first signs of an HAE attack, so you can seek prompt treatment, according to the U.S. Hereditary Angioedema Association.
Symptoms of Hereditary Angioedema
Swelling is the common theme in all HAE episodes. But different parts of your body may be affected. Your signs and symptoms might depend on the type of attack you have.
Subcutaneous Attacks
These attacks affect areas of the skin, usually on the face, hands, feet, or genitals. Your skin will swell and may turn red, but it usually doesn't itch. Sometimes a skin attack causes temporary disfigurement. The swelling can make it hard to perform simple activities like walking or holding a pen. Subcutaneous attacks are often mistaken for allergic reactions.
Abdominal Attacks
Abdominal attacks involve swelling in the intestinal wall that can lead to stomach pain, which may be debilitating. Sometimes you can actually see your stomach area swell but not always. Other symptoms of an abdominal attack include the following:
Nausea
Vomiting
Diarrhea
Abdominal attacks are often misdiagnosed as other medical problems, such as appendicitis or irritable bowel syndrome (IBS). Many people undergo unnecessary procedures because of the rarity of HAE.
Laryngeal Attacks
A laryngeal attack involves swelling in your throat. These attacks happen less often than skin or abdominal attacks, but they're the most serious. Swelling in the throat or tongue can stop air from getting in and out of your lungs and lead to suffocation.
You may experience these symptoms:
Tightening in your throat
Difficulty breathing or swallowing
Trouble talking
Hoarseness or a change in the sound of your voice
This type of attack is considered life-threatening and requires emergency medical care. Studies show that without treatment, laryngeal edema episodes have death rates that can be as high as 30 percent.
About half of people with HAE will have at least one laryngeal attack in their lifetime. You can have this type of attack at any time, even if you've never had one before.
It's a good idea to make sure that your family members, coworkers, and friends know what to do if you experience swelling in your throat.
Other Symptoms to Watch Out For
Some general symptoms are associated with HAE:
Pain
Fatigue or tiredness
Muscle aches
Tingling skin
Headache
Mood changes
About 25 percent of people with HAE also have a nonitchy rash that happens before or during an attack.
Sometimes an HAE attack can start in one location of the body, then move to another area.
HAE Early Warning Signs
Many times, HAE attacks occur without warning. But some people with HAE notice warning signs before an attack starts. These indicators can alert you that an episode is coming:
A sudden change in mood
Irritability or aggressiveness
Anxiety
Nausea
Extreme tiredness
A rash or tingling sensation where the swelling begins
Hoarse voice
Some people with HAE notice triggers that can lead to a swelling episode and find it helpful to keep a written log of their symptoms and triggers. This may help you predict your next episode.
Types of HAE
Symptoms of HAE happen because too much fluid accumulates in your body's tissues. There are three types of HAE: type 1, type 2, and HAE with normal C1 inhibitor.
Types 1 and 2 are the most common. In these types of HAE, either your body doesn't make enough of a protein called C1 inhibitor or the protein that it does make doesn't work properly. This is due to a variant in the SERPING1 gene.
The third type of HAE is very rare. In this type, C1 inhibitor levels are normal and functioning. This form of HAE has been linked to variants in different genes.
HAE usually starts in childhood and may worsen after puberty, though some people with HAE with normal C1 inhibitor may not have symptoms until adulthood.
Potential Complications of HAE
If an HAE attack affects your airway, it's an emergency and can be life-threatening, despite advances in treatment.
HAE attacks can last two to five days if untreated. Whether an attack is debilitating or leaves you feeling self-conscious, it can greatly impact your quality of life. HAE symptoms can affect your ability to perform daily activities, depending on your symptoms and pain level, leading to lower productivity and missed time from work, school, and social activities.
Living with HAE can also take an emotional toll. Many people with HAE experience anxiety and depression, according to research.
In addition to medical treatment, lowering stress levels and adopting a healthy lifestyle can help you deal with symptoms. If you have HAE, a good support system is also important.
When to See a Doctor
Diagnosing HAE can be challenging because it's rare and can be mistaken for other conditions. If you suspect that you or your child has symptoms of HAE, speak to your doctor.
If you already have a diagnosis, keep your doctor in the loop about any new or changing symptoms or if your medications aren't working as they should.
If you have a family history of HAE and are considering having children, talk with your doctor, as this condition is often passed down through families. You may want to speak to a genetic counselor about your risk of passing the disease to your offspring.
You should seek emergency medical care if you're having trouble swallowing or breathing, or if there are any signs of tongue or throat swelling, as this could be life-threatening.
Several treatments are now available that can prevent attacks, and on-demand medications can reduce the severity of an attack. Ask your physician if these treatments may be safe and effective for you. Be sure to have your on-demand treatment with you at all times, as you never know when an attack will happen.
The Takeaway
Hereditary angioedema can cause severe swelling in different parts of the body, including the skin, intestines, and throat. If you experience throat swelling, it's a medical emergency and requires immediate attention.
Distinguishing HAE attack symptoms such as sudden stomach pain or facial swelling from common conditions like allergies or IBS is crucial for avoiding unnecessary treatments and improving quality of life.
Keeping a diary of triggers and early warning signs like mood changes may help you predict and manage HAE attacks.
Treatments are available to prevent and reduce the severity of HAE attacks; consult your doctor to find the most suitable options for you.
