No textbook case: 6 varied ways angioedema symptoms manifest

While I myself was only diagnosed with hereditary angioedema in 2023, in retrospect, I’ve experienced angioedema throughout my life and with several of my children, and I know that symptoms can manifest quite uniquely from one person to the next.

In our home, we have a veritable exhibition hall of manifestations, with four family members having four different types of angioedema, each with a variety of symptoms.

Internal swelling

The first person to be diagnosed was my adopted daughter Leah. The first indication was a cascade of symptoms: nonstop headache, followed by exhaustion, rashes, gastrointestinal issues, and vascular inflammation. The most terrifying symptom of all was throat swelling. This is one of the most dangerous HAE reactions due to the possibility of airway blockage and total asphyxiation.

External swelling

My firstborn daughter Aria was diagnosed as an adult with allergic angioedema following an emergency room visit due to a reaction she had at work that caused extreme swelling of her mouth and lips. When she was a baby, we had witnessed facial swelling and her eyes puffing up after exposure to freshly mown grass. Once she was indoors with air conditioning, everything returned to normal. To my knowledge, she never had any other attacks until adulthood.

I was extremely confused when learning of Aria’s diagnosis, because it varied dramatically from what Leah experienced. How could both be angioedema? I began to do further research and educate myself, learning that there were many manifestations of angioedema, including criteria that I had experienced.

Swelling mistaken for other diagnoses

I began discussions with our immunologist about my abdominal distension and general feelings of bloating and pain. It seemed related to my irritable bowel syndrome, but I also experienced occasional vaginal swelling and discomfort. It wasn’t until authenticating before and after pictures of my stomach swells that the doctor began to take notice. He did the usual testing, but my levels of C1 esterase, a protein found in the blood, were always normal.

He tried other treatments before finally considering hereditary angioedema, known for short as HAE, following a particular foot swell that I documented with photos. The deciding factor came after a trial of medication. Within minutes of the first treatment in the office, I felt like my entire body was deflating. With that, I received a diagnosis of HAE type 3, or HAE with normal C1 levels.

Unilateral swelling

My oldest son Dorian was diagnosed with yet another form of HAE. He always had a rather overwhelming reaction to insect bites, as did I. These bites would swell up enormously, to the size of a teacup at times. Also, like me, his ankles and feet swell, especially when traveling.

There was one occasion when only one side of his face swelled — so much it looked as if he a had unilateral case of mumps. He initially went to the dentist, thinking it might be a jaw problem, which baffled the provider into believing he was grinding his teeth enough to cause extreme inflammation. We consulted our immunologist, shared documentation, and with testing found that Dorian has the more classic form of hereditary angioedema, type 1.

Medication-induced swelling

Today there are many forms of treatment for HAE. Back when Leah was first diagnosed, there were no oral medications approved for the condition. She was initially prescribed an intravenous (into-the-vein) medication which we were trained to administer at home. Following insurance challenges, she had to undergo several trials of other HAE medications, many of which caused adverse effects or even worsened her symptoms.  There were still other treatments that she could not even try because she had experienced reactions to other HAE medicines.

Other drug-related swelling can and has also occurred. Due to Leah’s multiple diagnoses and chronic daily intractable migraine, she has used many over-the-counter and prescription medications, some of which have caused a flare of her HAE.

With HAE, it’s generally recommended patients avoid nonsteroidal anti-inflammatory drugs (NSAIDS) like ibuprofen and naproxen. These NSAIDS are exactly what are recommended for arthritis and other ailments, but people with HAE can’t really use them safely.

Rashes aren’t swelling

Rashes are also very common with HAE and other types of angioedema. Such skin irritations, however, are often easily excused by parents, teachers, caregivers, and medical professionals. So many things can cause a rash: foods, chemicals, environmental exposures, childhood diseases, medications, and even stress. It can be especially difficult for anyone, even doctors, to see a rash and diagnose the source. Thus, this symptom could easily be dismissed entirely.

The uniqueness of HAE manifestations matter!

Early diagnosis and treatment cannot only lead to enhanced management of the disease but also potentially prevent a life-threatening event. It can also help prevent emergency intervention and costly medical treatments.

It’s often said, “If you’ve met one person with HAE, you’ve met only one person with HAE.”

Sadly, most general practitioners were trained in medical school that “If you hear hoof beats, think horses, not zebras,” and therefore do not look beyond the main presenting symptom. Many times, this results in patients not being taken seriously by their doctors.

If any of what you have read here rings true, and you or someone you care about has symptoms that just might be hereditary angioedema, please feel to share this article with your healthcare provider to help them to see beyond the textbook.

Know that we are stronger together and our voices, and zebra hoofbeats, shall be heard.

Note: Angioedema News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Angioedema News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to angioedema.