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Hereditary angioedema (HAE) is a rare genetic disorder. In fact, it's thought that HAE only affects between 1 in 10,000 and 1 in 50,000 people in the world. HAE can cause attacks of painful, disabling swelling in any part of the body. An HAE attack that affects the throat is potentially life threatening, because it puts you at risk of suffocation. Attacks can happen without warning or an obvious trigger and can last for days if untreated.
Most people with hereditary angioedema (HAE) don't have enough of a protein called C1 esterase inhibitor (C1-INH) or the protein their bodies produce does not work the way it should.
When it's at normal levels and working properly, C1-INH helps block overproduction of another protein called bradykinin, which can cause fluid in the blood vessels to leak into surrounding tissue and cause swelling.
HAE symptoms can be very different from person to person. That means one person with HAE could experience symptoms with greater severity and frequency or in different locations than someone else who also has HAE. HAE symptoms can also change within the same person. For example, some women with HAE experience a shift in the frequency of their HAE attacks during various life stages, such as puberty, pregnancy or menopause.
HAE can cause attacks of swelling in any part of the body, but the most common locations include the abdomen, face, feet, genitals, hands and throat. An attack that causes swelling in the throat can interfere with breathing, creating a potentially life-threatening situation. While these attacks occur less frequently than other types of attacks, they are the most serious. If you experience an HAE attack affecting your airway, seek emergency treatment as soon as possible.
Because hereditary angioedema (HAE) is rare and under-recognized by physicians, HAE symptoms are frequently misdiagnosed as other, more common conditions. In a survey of 313 patients, 65% of participants reported receiving a misdiagnosis before being accurately diagnosed with HAE.
Finding a doctor who knows about HAE can be difficult, so it’s in your best interest to do your research. Look for an HAE expert, learn as much as you can about the condition and keep a record of your symptoms and family history. If a doctor thinks you might have HAE, he or she will perform a blood test to confirm the diagnosis.
If you or a loved one has been diagnosed with HAE, it may feel like few people really understand what you’re going through. But you’re not alone. Connecting with the HAE community can help you learn from people who have been where you are and give you the opportunity to share your own experiences with people who can relate.
Shire provides funding to some of the below organizations in support of efforts that include, but are not limited to: research, education, meetings/events and support.
This non-profit patient advocacy organization, founded and staffed by HAE patients and caregivers, provides a wide range of HAE resources and personalized patient support.
Check out current research, connect with experts and see what’s top of mind for today’s allergists, immunologists and other healthcare professionals.
Explore the resources available through this wide network of healthcare professionals dedicated to improving the quality of patient care.
A rare disease umbrella organization that provides advocacy, research, education and patient services in the US. See how they help and find out how you can get involved.
We were in a flooded area and she managed to get the meds shipped to us.
– Melodie Louis, OnePath Patient supported by Iqra