Hereditary angioedema (HAE) is a rare genetic condition that causes recurrent episodes of swelling involving the skin, face, lips, tongue, throat, abdomen, or extremities due to dysregulation of a biologic pathway called the kallikrein-bradykinin pathway. Unlike allergic swelling, HAE does not cause hives or itching and does not respond to antihistamines, steroids, or epinephrine. Swelling episodes can be painful, unpredictable, and sometimes serious, especially when they affect the airway. Symptoms often begin in childhood or adolescence and may worsen during times of stress, illness, hormonal changes, or after trauma or medical procedures.
There are three main types of HAE. Types 1 and 2 are caused by problems with a protein called C1 inhibitor, either low levels (type 1) or dysfunctional protein (type 2). Type 3 (also called HAE with normal C1 inhibitor) has normal C1 inhibitor testing but kallikrein-bradykinin dysregulation. It is sometimes linked to estrogen sensitivity or specific genetic variants. Evaluation typically includes blood testing to measure C1 inhibitor levels and function and complement markers such as C4. Genetic testing may be used in select cases. Treatment focuses on both preventing attacks and treating swelling episodes when they occur. Modern therapies are highly effective and may include on-demand injectable or oral medications, as well as preventive injectable or oral treatments that significantly reduce attack frequency and improve quality of life.
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