How to manage recurrent swelling in a male?

Question

Hello doctor,

My 35-year-old cousin has been experiencing recurring episodes of severe swelling in her face, lips, and throat over the past year. The swelling comes on suddenly and can last for several days. Her mother had similar symptoms, and we are concerned this could be hereditary. During the last episode, her throat swelled so much that she could barely breathe and had to go to the emergency room.

What tests can confirm whether this is a genetic condition? Are there preventive treatments available? We are worried that future episodes could be life-threatening. Please help.

Thank you in advance.

Answer 1

Hi,

Welcome to icliniq.com.

I read your query and can understand your concern.

It must be very stressful for him to go through this. It appears that your cousin may be experiencing an allergic reaction. Sudden swelling of the face, lips, and airways can be triggered by exposure to certain foods, drinks, or environmental allergens such as pollen.

As you mentioned that her mother had similar symptoms, this suggests the condition might run in the family, supporting the possibility of a hereditary form of allergy. I strongly recommend consulting a medical specialist. They may prescribe an adrenaline auto-injector (commonly used for emergency treatment of severe allergic reactions). The patient should carry this auto-injector at all times and use it immediately if swelling in the throat or breathing difficulties occur, as these can be life-threatening.

Additionally, the patient can take over-the-counter antihistamine tablets (anti-allergy pills) to help manage milder symptoms. After proper evaluation and blood tests, it will be possible to confirm whether the cause is an allergy and identify the specific triggers.

Recommended investigations:

Complete blood count (CBC) – to assess overall health and detect signs of allergic inflammation.
Serum tryptase level – to measure mast cell activation, which can indicate severe allergic reactions.
Skin prick test or patch test – to identify specific allergens that trigger the reaction.

Differential diagnosis (other possible conditions to consider):

Allergic reaction (IgE-mediated hypersensitivity).

Asthma.

Hereditary angioedema (HAE) – a rare genetic disorder that can cause similar swelling without itching or hives.

Probable diagnosis:

Allergy (if supported by test results).

Treatment plan:

Daily or as-needed antihistamine tablets (anti-allergy pills).
Adrenaline auto-injector for emergency use.

Follow-up:

Re-evaluation after seven days or earlier if symptoms worsen.

Preventive measures:

Identify and strictly avoid known triggers (such as specific foods, drinks, medications, or environmental allergens).
Always keep the adrenaline auto-injector accessible.

It is important to seek specialist advice promptly, as swelling of the throat can become fatal if not treated quickly.

I hope this helps.

Kindly revert so I can assist you further.

Thank you.