Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of severe swelling (angioedema) in various parts of the body, such as the limbs, face, gastrointestinal tract, and airways.
These attacks are often painful and can be life-threatening when affecting theairways. HAE is usually caused by mutations in the SERPING1 gene, leading to deficiency or dysfunction of the C1 inhibitor protein. Diagnosis is confirmed through clinical evaluation, family history, and laboratory tests measuring C1 inhibitor levels and function. In rarer cases, episodes of angioedema can also occur due to other genetic mutations, despite normal levels and functional activity of C1 inhibitor. Treatment includes acute management of attacks with C1 inhibitor concentrates, bradykinin receptor antagonists, and kallikrein inhibitors, as well as prophylactic measures to prevent future attacks. Comprehensive care and patient education are essential for effective management and to reduce the risk of complications.
