Question 1

What is Hereditary Angioedema?

Accepted Answer

Hereditary Angioedema (HAE) is a rare genetic disorder that causes severe, recurring episodes of swelling in the face, throat, hands, feet, and abdomen. It is caused by deficiency or dysfunction of C1 inhibitor protein, which leads to overactivity of the complement system and depletion of complement components. The Complement Component C4c test is the most important test for diagnosis because C4c levels are characteristically low in HAE patients.

Question 2

What causes Hereditary Angioedema?

Accepted Answer

Hereditary Angioedema is caused by genetic mutations that lead to deficiency or dysfunction of C1 inhibitor protein, a critical regulator of the complement system. When C1 inhibitor protein is absent or not working properly, the complement cascade becomes overactive, producing excess bradykinin, a substance that causes blood vessels to leak fluid into surrounding tissues. This uncontrolled process results in the severe swelling episodes characteristic of HAE, which can affect the skin, gastrointestinal tract, and potentially life-threatening airway swelling.

Question 3

What is the best test for Hereditary Angioedema?

Accepted Answer

The Complement Component C4c test is the most important screening test for Hereditary Angioedema because C4c levels are characteristically low in patients with this condition. The overactive complement system continuously depletes C4c, making persistently low levels a key diagnostic marker. For comprehensive evaluation, the Complement Component C3c and C4c combined test is essential as it measures both complement components simultaneously, providing a complete assessment of complement system function. If you have low C4c levels, additional testing for C1 inhibitor protein levels and function is typically needed to confirm the diagnosis and determine the specific type of HAE.

Question 4

When should I get tested for Hereditary Angioedema?

Accepted Answer

You should get tested if you experience recurring episodes of swelling in your face, lips, tongue, hands, feet, or abdomen without an obvious cause like allergies or injury. Testing is especially important if you have a family history of unexplained swelling or if the swelling does not respond to antihistamines or typical allergy medications. Seek immediate testing if you experience throat or tongue swelling that affects your breathing, as HAE can cause life-threatening airway obstruction. Early diagnosis is critical because HAE requires specific treatments different from common allergic reactions.

Question 5

What are the symptoms of Hereditary Angioedema?

Accepted Answer

Hereditary Angioedema causes sudden, severe swelling episodes that typically last 2-5 days without treatment. You might notice dramatic swelling in your hands, feet, face, lips, or tongue that comes on without warning. Abdominal attacks cause intense cramping pain, nausea, vomiting, and diarrhea that can be mistaken for acute appendicitis or bowel obstruction. The most dangerous symptom is throat swelling, which can progress rapidly and block your airway, making breathing difficult or impossible. Unlike allergic reactions, HAE swelling is not itchy and does not respond to antihistamines or epinephrine.

Question 6

Who is at risk for Hereditary Angioedema?

Accepted Answer

Hereditary Angioedema is an autosomal dominant genetic condition, meaning if one parent has HAE, each child has a 50% chance of inheriting the disorder. The condition affects both men and women equally and typically first appears in childhood or adolescence, though symptoms can emerge at any age. About 25% of cases occur as new spontaneous mutations without any family history. People of all ethnic backgrounds can develop HAE, with an estimated 1 in 50,000 people affected worldwide, making it a rare but serious genetic disorder.

Question 7

What happens if Hereditary Angioedema is left untreated?

Accepted Answer

Untreated Hereditary Angioedema can be life-threatening, particularly when swelling affects the airway. Throat and laryngeal swelling can progress rapidly and cause fatal asphyxiation, with historical mortality rates as high as 30% before modern treatments were available. Repeated abdominal attacks cause severe pain, dehydration, and unnecessary surgeries when misdiagnosed as acute surgical conditions. Frequent swelling episodes significantly impact quality of life, causing missed work or school, social isolation, and constant fear of unpredictable attacks. With proper diagnosis and treatment, however, most people with HAE can prevent attacks and live normal, active lives.

Question 8

Can Hereditary Angioedema be diagnosed with a blood test?

Accepted Answer

Yes, Hereditary Angioedema can be diagnosed through specific blood tests that measure complement system components. The Complement Component C4c test is the primary screening tool, as C4c levels are persistently low in most HAE patients even between swelling episodes. The C3c test and combined C3c and C4c tests provide additional information about complement system function. If these screening tests show abnormalities, your doctor will order additional blood tests to measure C1 inhibitor protein levels and function to confirm the diagnosis and determine which type of HAE you have, which is important for selecting the most effective treatment.

Question 9

How is Hereditary Angioedema treated?

Accepted Answer

Hereditary Angioedema is treated with specialized medications that either replace the missing C1 inhibitor protein or block the production of bradykinin, the substance that causes swelling. Acute attacks are treated with C1 inhibitor replacement therapy, icatibant (a bradykinin receptor blocker), or ecallantide (a kallikrein inhibitor), which can stop swelling within hours. Preventive medications taken regularly can reduce the frequency and severity of attacks by 90% or more. Short-term prophylaxis is used before dental procedures or surgeries to prevent attack triggers. Modern HAE treatments are highly effective, allowing most patients to control their condition and avoid emergency situations.

Question 10

How can I prevent Hereditary Angioedema attacks?

Accepted Answer

While you cannot prevent having Hereditary Angioedema if you inherited the genetic mutation, you can prevent many swelling attacks by identifying and avoiding personal triggers. Common triggers include physical trauma, dental procedures, surgery, infections, stress, certain medications (especially ACE inhibitors and estrogen-containing birth control), and sometimes specific foods. Taking preventive medications as prescribed by your HAE specialist can dramatically reduce attack frequency. Keep emergency medications on hand at all times and wear medical alert identification. Developing a comprehensive management plan with an immunologist or HAE specialist helps minimize attacks and ensures you are prepared to treat breakthrough episodes quickly.

Question 11

What can I do at home for Hereditary Angioedema?

Accepted Answer

At home, the most important thing you can do is keep your prescribed HAE emergency medications readily accessible and ensure family members know how to administer them if you cannot. Track your swelling episodes in a diary to identify personal triggers and patterns. Maintain good communication with your HAE specialist and have a written action plan for treating different types of attacks. Manage stress through relaxation techniques, as emotional stress can trigger episodes in some people. Stay hydrated during abdominal attacks and rest in a comfortable position. However, never rely solely on home remedies for HAE, as this is a serious medical condition requiring specific pharmaceutical treatments that are not available over the counter.

Question 12

How’s this work?

Accepted Answer

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Question 13

How do I know which test to get?

Accepted Answer

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Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

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Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

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Question 18

How can I find a lab location near me?

Accepted Answer

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Hereditary Angioedema Blood Test

What is Hereditary Angioedema?

What causes Hereditary Angioedema?

What is the best test for Hereditary Angioedema?

When should I get tested for Hereditary Angioedema?

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