Hereditary angioedema, or HAE, is not a well-known condition, but for those who have it, the impact is anything but small. It causes episodes of swelling in areas like the face, hands, stomach, or throat and can show up unexpectedly. Because the symptoms often look like other conditions and can vary widely from one person to the next, HAE is frequently underdiagnosed or misdiagnosed. That’s why understanding the true hereditary angioedema prevalence is more complicated than it may seem.

Prevalence of Hereditary Angioedema

Current estimates suggest that hereditary angioedema affects around 1 in 50,000 people globally. In Canada, that would translate to roughly 800 people, although the actual number may be higher. The problem is that many people live with symptoms for years before receiving an accurate diagnosis, if they get one at all. Some are told they have allergies, stomach issues, or stress-related symptoms, which delays proper treatment.

HAE is a genetic condition, which means it’s passed down through families. If one parent has the disorder, there’s a 50 percent chance their child will also have it. However, up to 25 percent of cases occur due to new, spontaneous genetic mutations, meaning you could develop HAE even if no one in your family has it. That unpredictability makes the condition harder to track and contributes to gaps in data on how many people are actually affected.

Why So Many Cases Go Undiagnosed

Part of the issue with understanding hereditary angioedema prevalence is how widely symptoms can differ. Some people have frequent and severe attacks, while others may only experience a few mild episodes in their lifetime. When swelling affects the digestive system, it can mimic symptoms of other gastrointestinal problems. Swelling in the throat can be life-threatening but may not be immediately linked to HAE unless the doctor is familiar with the condition.

There’s also a lack of awareness among both patients and healthcare providers. Because it’s a rare condition, it’s not always the first thing doctors look for when someone comes in with unexplained swelling or stomach pain. For many, getting to the right diagnosis can take years and multiple doctors.

Living with HAE

Living with this condition can be challenging because attacks often come without warning and can disrupt daily life. Managing the condition usually involves working closely with healthcare providers to identify triggers and develop a treatment plan to reduce the frequency and severity of attacks. Newer therapies have improved the outlook for many patients, but early diagnosis remains key. Support groups and patient resources also play an important role in helping those affected cope with the emotional and physical toll of the disorder.

Conclusion

Even though the prevalence of hereditary angioedema is considered low, the condition has a significant impact on those who live with it. Raising awareness can help close the gap in diagnoses and allow more people to access the treatment they need. If you or someone in your family has unexplained episodes of swelling or abdominal pain, it may be worth exploring whether HAE could be a factor.