Angioedema symptoms can vary widely — even within a family

“So what are your symptoms?” is always the doctor’s first question. But which of my symptoms stem from hereditary angioedema (HAE), and which are caused by my many other health conditions?

It took most of my life to get diagnosed with HAE. As a kid, I had horrible reactions to mosquito bites, as well as rashes and severe gastrointestinal (GI) issues. My main symptoms were fatigue and GI pain. Some doctors believed these issues were psychosomatic, but my parents weren’t satisfied until a local gastroenterologist prescribed me an acid reducer, which helped with the GI symptoms.

As an adult, though, I’ve continued to experience a variety of issues, including GI pain, bowel issues, brain fog, rashes, exhaustion, and occasional abdominal swelling. In 2005, I was diagnosed with Lyme disease, which caused crazy multisystem symptoms that were seemingly unrelated and random. But that made sense to me, as I was dealing with a pathogen that had invaded my body. Since then, I’ve received various other diagnoses, but none seemed to explain all of my health issues.

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My daughters’ symptoms

Then, in 2015, my adopted daughter, Leah, started experiencing seemingly unrelated multisystem symptoms, including headache, exhaustion, rashes, and vascular, throat, and GI swelling. She received multiple diagnoses before anyone suggested angioedema, and a diagnosis of HAE type 2 in 2019 finally resulted in a treatment that addressed her many health issues.

But the first time I saw external swelling was in 1989, when my firstborn, Aria, had an allergic reaction as a baby. Her face puffed up so much her eyes swelled shut! She had a similar reaction in 2016 and was told it was acute allergic angioedema, but she never required treatment. This was so different from her sister’s experience. I was super confused.

As I began to research more about HAE and its symptoms after Leah’s diagnosis, I learned that swelling can happen anywhere in the body, including in the skin, the GI system, and the airways.

I began to wonder if my symptoms, though different from my daughters’, might be caused by HAE. So I scheduled an appointment with an immunologist and began my diagnosis journey.

My journey to an HAE diagnosis

At first, since I had a history of GI issues and my swelling was abdominal, doctors figured it was, at most, a mast cell reaction. Therefore, my first diagnosis was mast cell activation syndrome (MCAS). And when genetic testing showed that I had a predisposition for irritable bowel syndrome (IBS), I was diagnosed with that condition, as well. However, even with treatment for MCAS and IBS, I was still experiencing issues!

The basic test for HAE is a blood test that measures the levels and activity of the C1-INH protein. As an Angioedema News resource page explains, “If a patient has abnormally low levels of C1-INH, they are typically diagnosed with HAE type 1, whereas if C1-INH levels are normal but the protein’s activity is unusually low, they may be diagnosed with HAE type 2.”

The doctor repeatedly tested my blood, but my C1-INH levels and activity were normal, so we figured it probably wasn’t HAE.

I began taking pictures before, during, and after my abdominal swelling episodes. Then, during a long flight when I was totally exhausted, I noticed that my foot was swollen. While my ankles sometimes swell when I’m sitting for long periods, it seemed odd that only one foot was swollen. I made sure to take comparison pictures.

I shared the photos with my doctor and asked if I could possibly have HAE type 3, in which C1-INH levels and activity are both normal. He suggested a trial of HAE medication as the definitive answer. Within an hour of my first dose, my body felt like it was deflating. It was amazing, and the opposite of what I normally experienced during an attack. This confirmed it: I had HAE type 3.

There’s a common saying in our community: “If you’ve met one person with HAE, you’ve met only one person with HAE.” Everyone is different. This is absolutely true, especially within our family. My oldest son, Dorian, recently received an HAE type 1 diagnosis. We now have four people with four different types of angioedema in our family.

My advice is to listen to your body, log your symptoms, and be tenacious in advocating for yourself!

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.