Founded and staffed by HAE patients and caregivers, the U.S. HAEA is a 4500 member, non-profit patient advocacy organization dedicated to serving persons with hereditary swelling conditions caused by C1 Inhibitor Deficiency and other undetermined causes. The US HAEA's fundamental goal is to improve the lives of HAE patients and their families by providing a support network and a wide range of services including: individualized patient support, physician referrals, authoritative and readily accessible disease-related information, and clinical research aimed at finding a cure.
HAE is a rare genetic disease caused by low levels or a dysfunction of C1 esterase inhibitor (C1-INH). Reduced C1-INH activity can lead to elevated plasma levels of bradykinin, which is thought to be responsible for HAE symptoms.
HAE is characterized by recurrent sudden attacks of edema (swelling) of the skin (hands, arms, feet, legs, thighs, face, and genitals) or the mucous membranes (gastrointestinal tract, larynx or voice box). The swelling can be disfiguring and painful, especially in case of abdominal attacks. Laryngeal attacks are potentially life-threatening due to the risk of suffocation. Unlike angioedema caused by allergic reactions, signs and symptoms such as hives and itching do not occur in HAE. Signs and symptoms of HAE do not respond to standard treatments for allergic angioedema such as epinephrine, corticosteroids, and antihistamines.
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|SOURCE Shire plc|
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