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Understanding Hereditary Angioedema: Causes, Symptoms, and Treatment Options

Hereditary angioedema (HAE) is a rare genetic condition that causes swelling under the skin and lining of the gut and lungs. If you or a loved one has been diagnosed with HAE, it's essential to understand the causes, symptoms, triggers, and available treatment options to manage the condition effectively.

What Causes Hereditary Angioedema?

HAE is caused by a problem with a gene that makes a blood protein called C1 inhibitor. In most cases, people with HAE don't have enough of this protein, or the protein doesn't work correctly. This imbalance leads to tiny blood vessels pushing fluid into nearby areas of the body, causing sudden swelling.

HAE is an inherited condition. If one of your parents has HAE, you have a 50% chance of having it too. However, sometimes the gene change happens for unknown reasons.

Symptoms of Hereditary Angioedema

The main symptom of HAE is swelling, which can occur in different parts of the body, such as:

  • Mouth or throat

  • Hands

  • Feet

  • Face

  • Genitals

  • Belly

Swelling in the throat is the most dangerous symptom, as it can cut off airways and be life-threatening. Swelling in the belly can cause extreme pain, nausea, vomiting, and diarrhea.

Triggers of Hereditary Angioedema Attacks

Common triggers of HAE attacks include:

  • Stress or anxiety

  • Minor injury or surgery

  • Illnesses such as colds or flu

  • Physical activities like typing, hammering, or pushing a lawn mower

  • Certain medications, including some used for high blood pressure and congestive heart failure

Women with HAE may notice changes in the frequency or severity of attacks during menstruation, pregnancy, or while using birth control or hormone replacement therapy containing estrogen.

Diagnosing Hereditary Angioedema

If you suspect you have HAE, consult your doctor. They will ask about your symptoms, family history, and perform a physical exam. Blood tests are necessary to confirm the diagnosis. If you are diagnosed with HAE, your doctor may refer you to a specialist familiar with the condition.

It's important to get the right diagnosis, as HAE is sometimes mistaken for allergies. Antihistamines and corticosteroids used to treat allergies are not effective for HAE.

Treatment Options for Hereditary Angioedema

There are several medications available to treat or prevent HAE attacks, including:

  • Berotralstat (Orladeyo)

  • C1 esterase inhibitor (Berinert, Cinryze, Haegarda)

  • Conestat alfa (Ruconest)

  • Ecallantide (Kalbitor)

  • Icatibant (Firazyr)

  • Lanadelumab-flyo (Takhzyro)

Your doctor will recommend the most suitable treatment based on your individual needs. In some cases, oxygen or IV fluids may be necessary to ease symptoms.

Living with Hereditary Angioedema

To manage HAE effectively, learn as much as you can about the condition and work closely with your healthcare team. Keep track of your triggers and symptoms in a journal to help identify patterns. Always carry your medical information with you and inform caregivers and family members about your condition and what to do in case of an attack.

Remember, any swelling in the throat is an emergency. Take your medication for attacks and call 911 immediately.

Connecting with others living with HAE can provide valuable support and insights. Visit the U.S. Hereditary Angioedema Association website to learn more and find support.

While there is no cure for HAE, advancements in treatment have made it possible for people to manage their symptoms and lead active lives. Work closely with your healthcare team and stay informed about new treatment options to ensure the best possible care.

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