Hereditary angioedema (HAE) is a genetic disorder characterized by recurrent episodes of severe swelling in various parts of the body, including the skin, gastrointestinal tract, and airways. It results from a deficiency or dysfunction of C1 inhibitor, a protein involved in regulating the complement system.
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HAE is caused by mutations in the SERPING1 gene that lead to deficient or dysfunctional C1 inhibitor.
The condition is often triggered by stress, trauma, surgery, or infections.
Swelling episodes can be life-threatening if they involve the airway and cause breathing difficulties.
HAE can be differentiated from other types of angioedema because it does not respond to typical allergy medications like antihistamines or corticosteroids.
Management includes prophylactic treatments and on-demand therapies such as C1 inhibitor concentrates and bradykinin receptor antagonists.
Review Questions
What genetic mutation causes hereditary angioedema?
How can hereditary angioedema episodes be distinguished from allergic reactions?
What are common triggers for an episode of hereditary angioedema?
Related terms
Complement System: A part of the immune system that enhances the ability of antibodies and phagocytic cells to clear pathogens.
C1 Inhibitor: A protein that regulates the complement system and prevents spontaneous activation.
Bradykinin: A peptide that causes blood vessels to dilate (enlarge), leading to lowered blood pressure and swelling.