Hereditary angioedema (HAE) is a rare genetic disorder that causes recurrent episodes of swelling in various body parts, including the face, limbs, abdomen, and genitals. The swelling can be severe and debilitating, and can sometimes be life-threatening if it affects the airway. HAE is estimated to affect approximately 1 in 50,000 people worldwide, with equal prevalence in males and females.
HAE is caused by a deficiency or dysfunction of the C1 inhibitor protein, which is involved in regulating the body's immune system. This deficiency leads to an overproduction of bradykinin, a substance that promotes blood vessel dilation and increased permeability, resulting in the characteristic swelling of HAE.
While HAE is a chronic condition, there have been significant advancements in treatment options in recent years. These include medications such as plasma-derived C1 inhibitor concentrate, recombinant C1 inhibitor, and kallikrein inhibitors, which can help prevent or reduce the severity of swelling episodes. Additionally, research is ongoing into novel therapies, such as gene therapy and RNA interference, which hold promise for potential cures or long-term management of HAE. With ongoing research and advancements in treatment, the future outlook for individuals with HAE is improving, offering hope for better disease control and improved quality of life.