A Visual Guide to Hereditary Angioedema

Hereditary angioedema (HAE) is a rare genetic condition that causes sudden, severe swelling in different parts of your body. This happens because fluid builds up in your tissues when certain proteins in your blood don't work properly. The swelling can be painful and potentially dangerous, especially if it affects your throat or airways.

Type I HAE is the most common form, caused by low levels of C1 inhibitor proteins. Type II HAE happens when your body makes faulty versions of these proteins. Type III HAE mainly affects women and is linked to estrogen, but doctors aren't sure exactly what causes it. All types can cause serious swelling attacks.

HAE is passed down from parents to children through genes. You only need one copy of the abnormal gene from one parent to have the condition. If a parent has HAE, each child has a 50% chance of inheriting it, regardless of whether they're a boy or girl. It's not contagious — you can't catch it from someone else.

The main symptom is hard, painful swelling that's not red or itchy like other types of swelling. Symptoms usually start in childhood and get worse during puberty. You might also experience nausea, vomiting, stomach pain, and about one-third of people get a non-itchy skinrash during attacks.

HAE can cause swelling in your hands, feet, eyelids, lips, and genitals. It can also affect your digestive tract and airways. Throat swelling is especially dangerous because it can block your breathing. Face and hand swelling are more visible, while digestive tract swelling causes severe stomach pain that's often misdiagnosed.

Swelling attacks tend to happen every week or two and can last up to several days. How often attacks occur varies from person to person, even within the same family. Some people have attacks weekly, while others might go months between episodes. The frequency can range from once a week to once a year.

Several things can trigger an HAE attack: physical injury, severe pain, surgery, dental procedures, viral illnesses, and stress. Knowing your triggers can help you prepare and potentially prevent attacks. You may also notice warning signs before an attack, like tingling, mood changes, or unusual fatigue.

Doctors diagnose HAE through physical exams, medical history, and blood tests that check protein levels. They may also do genetic testing. X-rays, CT scans, or ultrasounds can help during attacks to see swelling in your digestive system or chest. Getting the right diagnosis is important for proper treatment.

Go to the emergency room immediately if your throat starts to swell. This can block your airway and stop you from breathing. Watch for trouble swallowing, speaking, or noisy breathing. In severe cases, doctors may need to make a temporary opening in your throat to help you breathe.

HAE treatment has three main goals: preventing attacks from happening, treating symptoms when they appear, and providing protection before events that might trigger an attack (like dental work or surgery). Treatment involves both medications and other supportive therapies to manage this lifelong condition.

Several medications are available to treat HAE, including daily pills to prevent attacks and injections for treating sudden attacks. Some are given through IVs, others under the skin. Your doctor will work with you to find the right medication based on your specific type of HAE and how often you have attacks.

Simple home remedies can provide relief during attacks: Try ice, cool showers, or cool, wet cloths on swollen areas. There's no special diet needed for HAE. Monitor your symptoms and take medications as prescribed. Keep track of potential triggers to help predict and prevent future attacks.

Since stress can trigger HAE attacks, managing stress is crucial. Try relaxation techniques like deep breathing, yoga, or meditation. Maintain a healthy lifestyle with regular exercise and enough sleep. Learn to say no to unnecessary commitments, and make time for self-care activities that help you relax.

Today's outlook for HAE is much better than in the past, thanks to effective treatments. Life expectancy is the same as the general population. Support groups like the U.S. Hereditary Angioedema Association can provide helpful resources. Work closely with your doctor to manage this condition successfully.