What tests confirm hereditary angioedema in my daughter?

Question

Hello doctor,

My 22-year-old daughter has been having recurring episodes of severe swelling in her face, lips, and throat that come on suddenly and last for several hours. This has happened approximately six times in the past year, and twice the swelling was so severe that we had to go to the emergency room.

Her father has a history of similar symptoms that were never properly diagnosed. So my concerns are:

Could this be hereditary angioedema, and what type of testing is needed to confirm it?
Are there preventive medications she should be taking to avoid these dangerous episodes?

Kindly suggest.

Answer 1

Hello,

Welcome to icliniq.com.

I understand your concern.

I read your query. Sudden swelling of the face, lips, and throat that lasts for hours and keeps coming back, with a strong family history, can be hereditary angioedema (HAE). It is one of the first things that comes to mind. The probable causes for this can be deficiency or dysfunction of the C1 esterase inhibitor, leading to recurrent angioedema.

So, I suggest you get a few investigations, such as:

C4 complement level (usually low during attacks).
C1 esterase inhibitor quantitative level.
C1 esterase inhibitor functional assay.
C1q level (helps differentiate types).

It is not allergic in nature, so regular antihistamines or steroids often do not help much. These symptoms can also be seen in other conditions like:

Allergic angioedema.
Acquired angioedema.
Idiopathic angioedema.

It can be dangerous when it involves the throat. Needs proper evaluation by an immunologist, and the treatment plan may include:

Hospital care is required for acute attacks along with airway monitoring, specific drugs like C1 inhibitor concentrate or Bradykinin antagonist (but these are specialist-guided).
For prevention, patients sometimes need long-term prophylaxis (like Tranexamic acid, attenuated androgens, or C1 inhibitor prophylaxis).

You should not start these on your own. Consult your physician before starting any medicine, and these medicines require an immunologist or hematologist. Until then, an emergency plan is vital, whenever throat swelling, straight to the ER (emergency room).

To prevent triggers of HAE, you need to avoid trauma, stress, and certain drugs like estrogen-containing pills and ACE (angiotensin converting enzyme) inhibitors. Always carry an emergency card stating hereditary angioedema suspected.

Please get the complementary tests done and share the results in the follow-up. Also consult an immunologist or hematologist for a long-term plan. Update me here with reports and details of the next episode, if any, which is important to track the pattern.

I hope this helps.

Thank you.