Hereditary Angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of swelling beneath the skin or mucosal surfaces. It is caused by a deficiency or dysfunction of a protein called C1 esterase inhibitor (C1-INH), which plays a crucial role in regulating inflammation and preventing fluid leakage from blood vessels.
The hallmark symptom of HAE is sudden and unpredictable swelling, typically affecting the face, extremities, gastrointestinal tract, and airways. These episodes can be painful, disfiguring, and potentially life-threatening if the swelling occurs in the throat, leading to airway obstruction.
HAE is an autosomal dominant disorder, meaning it can be inherited from a parent who carries the defective gene. However, it can also occur spontaneously due to a new mutation. The condition often remains undiagnosed or misdiagnosed for years, as its symptoms can resemble other allergic or inflammatory conditions.
Treatment for HAE focuses on managing acute attacks and preventing future episodes. Medications such as plasma-derived C1-INH, bradykinin receptor antagonists, and kallikrein inhibitors are used to relieve symptoms and reduce the frequency and severity of attacks. Additionally, patients are advised to avoid triggers that may provoke an episode, such as stress, trauma, certain medications, and hormonal changes.