HAE Awareness Day 2024
On 16 May every year, there is an awareness day for HAE - Hereditary Angioedema. This year people have been walking to raise awareness and money and so far over 7 million steps in 27 countries have been logged!
What is HAE?
Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of swelling (edema) in various parts of the body, including the skin, gastrointestinal tract, and upper airways. This condition is most commonly caused by mutations in the C1 inhibitor gene, resulting in decreased levels or dysfunctional activity of the C1 inhibitor protein, which plays a crucial role in regulating the complement system and controlling inflammation. We are also discovering mutations in other genes that may result in normal C1 inhibitor HAE.
How does it show?
HAE can manifest with unpredictable and sudden attacks of swelling, which can be debilitating and potentially life-threatening, especially if the swelling occurs in the throat or tongue, leading to airway obstruction. The severity and frequency of attacks can vary among individuals, and triggers for these attacks may include stress, trauma, hormonal changes, or certain medications.
Management of HAE involves a combination of preventive measures and acute treatment to alleviate symptoms during attacks. Preventive therapies aim to maintain adequate levels of functional C1 inhibitor protein in the body and may include long-term prophylactic medications or replacement therapy with C1 inhibitor concentrates. Acute treatment typically involves the administration of medications such as C1 inhibitor concentrates, bradykinin receptor antagonists, or plasma-derived products to relieve symptoms and prevent complications during attacks.
Overall, HAE is a complex and potentially serious condition that requires a multidisciplinary approach involving healthcare professionals, patient advocacy organizations, and researchers to improve diagnosis, treatment, and outcomes for individuals affected by this disorder.
More Information and Resources
Several sources provide comprehensive information and resources on HAE, including:
1. Hereditary Angioedema Association (HAEA) The HAEA is a patient advocacy organization dedicated to raising awareness, supporting, and advancing research for individuals affected by HAE. Their website offers educational materials, support services, and updates on research and treatment options for HAE. (Website: https://www.haea.org/)
2. Medical Journals and Publications -Medical journals often publish research articles, review papers, and case studies on HAE, providing insights into the latest advancements in understanding the pathophysiology, treatment modalities, and outcomes of this condition. Journals such as The Journal of Allergy and Clinical Immunology (JACI), Annals of Allergy, Asthma & Immunology, and The Lancet Respiratory Medicine frequently feature articles on HAE.
We have a forum discussion here HAE and Misconceptions
And an interview on HAE here HAE Interview
For anyone interested in being interviewed there is a form https://forms.gle/MZ1df1FWtJYHQvuy9 to express your interest in being interviewed as well as volunteering to interview someone else. You can also leave your feedback, Ideas, and comments too!
Catch up with other Interviews Here in our Master List!
Want to join the Disability Support Community Team? Find out more Here