What is Hereditary Angioedema?

Hereditary angioedema (HAE) is a rare genetic disorder characterized by sudden attacks of swelling in various body parts. The swelling or edema can occur in the hands, feet, limbs, face, intestinal wall, and airway. HAE is caused due to a defect in the gene that controls the C1-inhibitor protein, which regulates a group of proteins involved in inflammation and swelling. This defect leads to increased and repeated attacks of swelling in the body.

Symptoms of HAE

The symptoms of Hereditary Angioedema usually appear in adolescents and adults. Common symptoms observed during HAE attacks include:

- Swelling of the hands, feet, genitals, limbs or face. The swelling is usually non-pitting and not painful.

- Abdominal pain: Intestinal swelling is one of the major causes of abdominal pain in HAE. Episodes of severe cramping pain may occur due to swelling in the intestinal wall.

- Laryngeal edema: Swelling of tissues in the larynx or throat can be life-threatening as it obstructs breathing. Laryngeal attacks require immediate emergency treatment.

- Fatigue and malaise: Attacks may produce lethargy, discomfort and general unwellness.

- Nausea and vomiting: Common in abdominal attacks.

- Skin rashes: Hives or skin rashes may precede or occur with swelling attacks in some patients.

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