Hereditary angioedema (HAE) is a rare geneticdisorder characterized by recurrent episodes of severe swelling (angioedema) invarious parts of the body, such as the limbs, face, gastrointestinal tract, andairways.
Theseattacks are often painful and can be life-threatening when affecting theairways. HAE is usually caused by mutations in the SERPING1 gene, leading todeficiency or dysfunction of the C1 inhibitor protein. Diagnosis is confirmedthrough clinical evaluation, family history, and laboratory tests measuring C1inhibitor levels and function. Treatment includes acute management of attackswith C1 inhibitor concentrates, bradykinin receptor antagonists, and kallikreininhibitors, as well as prophylactic measures to prevent future attacks.Comprehensive care and patient education are essential for effective managementand to reduce the risk of complications.
