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Hereditary Angioedema

 Hereditary Angioedema



Hereditary angioedema is a rare genetic condition that causes swelling under the skin and lining of the gut and lungs. 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 treatment, and researchers continue to look for new solutions.

Symptoms most often initially 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. Where you have it on your body, how often the bouts happen, and how strong they are different for everyone. The attacks can come and go as well as move to different spots during the same bout. The swelling typically goes away on its own but can also occur as a life-threatening event.

Your throat can swell. That can cut off your airways and could be deadly. So if you know you have HAE and you feel any change like that, call 911 right away

Symptoms

The main symptom is swelling. You won’t have the itching or hives 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 warning signs before swelling begins. These may include:

Extreme fatigue

Muscle ache

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 medicines.

Causes

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.

A problem with a gene that makes 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.

For the most common form of HAE, if one of your parents has HAE, you have a 50% change 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.

Diagnosis

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 swelling, pain, and diarrhea and severe dehydration and if misdiagnosed, it can lead to surgery you don't need.

Your doctor will do a physical exam. You'll need blood tests, 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 other members of your family tested, even if no one has symptoms.

Treatment

Doctors can use medications to treat or prevent attacks:

Berotralstat (Orladeyo)

C1 esterase inhibitor (Berinert, Cinryze, Haegarda)

Conestat alfa (Ruconest)

Ecallantide (Kalbitor)

Icatibant (Firazyr)

Lanadelumab-flyo (Takhzyro)

You may also need oxygen or IV fluids to ease your symptoms.

Your doctor will make recommendations for what you need.

Type of Doctor Department : Pulmonologists, pediatricians, primary care, and ED physicians in addition to allergists/immunologists.

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