Hereditary angioedema (HAE)

Hereditary angioedema with C1Inh deficiency is a rare genetic disorder caused by a deficiency or dysfunction of C1 inhibitor, leading to recurrent episodes of swelling in the skin, gastrointestinal tract, and airways, with potential life-threatening complications like airway obstruction.

Hereditary angioedema with normal C1Inh is a rare form of hereditary angioedema where C1 inhibitor levels and function are normal, but mutations in other genes affect swelling regulation pathways. It causes recurrent swelling episodes that do not respond to conventional C1 inhibitor treatments.