living with hereditary angioedema: 'it’s always a worry in the back of my mind'
the challenges are many, but medical advancements are offering peace of mind and greater freedom for those living with this rare — but potentially life-threatening — genetic disorder
5 minute read
“what’s amazing about people living with hae is their resilience,” says michelle cooper, president and ontario regional director of hae canada. kara dillon
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this story was created by content works, postmedia’s commercial content division, on behalf of a client.
advocating for your own health has become paramount to receiving accurate diagnoses and appropriate care. but for those living with hereditary angioedema (hae) — a rare genetic disorder that causes recurrent, unpredictable episodes of severe swelling in various parts of the body — self-advocacy takes on a new importance as symptoms are often mistaken for more common conditions.
“what’s amazing about people living with hae is their resilience,” says michelle cooper, president and ontario regional director of hae canada. “they have to become experts in their own disease and self-advocate.”
the symptoms of hae affect multiple areas of the body and can be life threatening. “hae can cause painful swelling of the extremities, face, lips, tongue, genitals and bowels,” says dr. susan waserman, an allergist and clinical immunologist, director of the division of clinical immunology and allergy at mcmaster university and professor of medicine at mcmaster university. “the most serious symptom is laryngeal edema, or swelling in the tissues of the larynx, which can cause asphyxiation and death if not promptly treated.”
michelle herself lives with hae, having been diagnosed later in life. “looking back, the signs were there,” she says, “but hae attacks mimic so many other things.” she mentions a dental infection she had at the age of 18, which caused extensive facial swelling. “everybody said it was just the infection, but in retrospect, it was probably an hae attack.”
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while michelle is fortunate to not have had many severe attacks, she says that living with hae comes with a subtle, yet constant, feeling of anxiety. “it’s always a worry in the back of my mind,” she says. “something like going to the dentist causes high levels of anxiety for me, because i don’t know if it’s going to trigger symptoms.”
indeed, dental procedures are well-known causes of hae attacks. attacks can also be triggered by anxiety, stress, minor trauma, illnesses, some repetitive movements or activities, hormone fluctuations and certain medications.
understanding hae
hae is genetic in nature — an abnormal gene can be inherited from either parent. spontaneous mutations can also occur, meaning hae can appear in people with no known family history of the disease.
“hae is caused by a mutation in a gene which encodes for an enzyme known as c1 inhibitor,” explains dr. waserman. “c1 inhibitor blocks several proteins that are involved in inflammation. when c1 inhibitor isn’t doing its job, bradykinin — the main cause of swelling — is produced in excessive amounts.”
hae is often difficult to diagnose. for starters, the condition is quite rare: it affects an estimated 1 in 10,000 to 1 in 50,000 people, according to dr. waserman. second, its symptoms are often misdiagnosed as an allergic reaction or other common condition. “swelling is a common symptom in both conditions, but there are significant differences,” notes dr. waserman. “hae is driven by bradykinin, whereas allergy is largely driven by histamine.”
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this means that the drug epinephrine, while effective for treating severe allergic reactions, isn’t effective at reducing swelling caused by hae. “even with a diagnosis, those living with the condition will go to the er with a treatment plan and often still be given epinephrine, which doesn’t work for hae,” adds michelle.
dr. susan waserman is an allergist and clinical immunologist, director of the division of clinical immunology and allergy and professor of medicine at mcmaster university. supplied
there are also several different types of hae, which can further complicate its diagnosis. “the main types of hae are type 1 and type 2,” says dr. waserman. “in type 1 hae, which comprises about 85 percent of cases, there’s a deficiency of c1 inhibitor. in type 2, which accounts for about 15 percent of cases, the enzyme is present, but it doesn’t function properly. both types 1 and 2 lead to excess bradykinin and swelling. in type 3, c1 inhibitor levels and function are normal, and the diagnosis relies more on clinical features as opposed to blood tests that measure c1.”
the challenges of living with hae
patients living with hae face many day-to-day challenges, which were even more marked before effective therapies became available about 15 years ago. “because of the unpredictability and potential seriousness of the symptoms, hae would interfere with individuals’ work, schooling, social life and their overall mental health, often causing anxiety and depression,” says dr. waserman.
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and this is consistent with the research; in a 2024 national patient survey conducted by hae canada, 86 percent of hae patients said that living with hae impacted their social and personal well-being, 83 percent said it impacted their ability to work a full-time job and another 83 percent said it impacted their ability to participate in physical activities.
“there’s also so much shame,” adds michelle. “people don’t want to tell others about their disease or to go out in public if their face is swollen. with hae, there’s the physical impact — it’s painful, it’s disfiguring, it’s unpredictable and it can be life-threatening — but there’s also an emotional burden.”
new preventative medications offer ease and convenience
fortunately, hae treatment options have come a long way in recent years. options to help manage the disease include both short-term and long-term prophylaxis (preventative therapies) and on-demand options for acute cases (sudden attacks).
when taken regularly, prophylactic treatment can help minimize the frequency and severity of hae attacks. this preventative therapy is akin to how those living with asthma — another chronic condition — may use a controller medication to reduce the number of asthma attacks they experience.
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“the role of prophylaxis is peace of mind and the ability to live a normal, or near-normal, life,” says dr. waserman. “long-term prophylaxis is much more desirable than treating individual attacks as they arise, and it has allowed people to be productive at work, strive for promotion, attend school, socialize and travel without disfiguring and potentially life-threatening symptoms.”
the benefits of oral (rather than subcutaneous) prophylaxis are many, dr. waserman notes: “they’re easier to administer, easier to travel with and a highly convenient way to deliver effective prophylaxis. adolescents often prefer it, and it can help patients who are needle-phobic or who depend on somebody else to administer their medication.”
“while we’re grateful for the advances in available treatments, now including the addition of oral prophylaxis, there is still unequal access to these life-changing treatments across canada, particularly for those with normal c1,” notes michelle. much work is still needed to ensure all hae patients have access to the treatment they need, regardless of where they live or their hae type.
dr. waserman encourages people living with hae to stay connected with their specialist, patient support programs and advocacy groups like hae canada to keep aware of new treatment options. “awareness is always an issue,” she notes.
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visit haeswitchitup.ca and talk to your health-care provider to learn about all of the treatment options available for hae.
this story was created by healthing content works, healthing.ca’s commercial content division, on behalf of biocryst.
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