Hereditary Angioedema

Understanding Hereditary Angioedema (HAE)

Hereditary Angioedema (HAE) is a rare, genetic disorder characterized by recurrent episodes of severe swelling (angioedema) in various parts of the body. HAE is caused by mutations in the SERPING1 gene, which leads to a deficiency or dysfunction of C1 esterase inhibitor (C1-INH), a protein responsible for regulating fluid balance in tissues. Without proper regulation, excessive fluid accumulation results in unpredictable and potentially life-threatening swelling episodes. HAE is inherited in an autosomal dominant pattern, meaning that each child of an affected parent has a 50% chance of inheriting the mutated gene.

Common Signs and Symptoms of HAE:

• Recurrent Swelling Episodes: Sudden, severe swelling affecting the face, lips, tongue, throat, extremities, or abdomen.
• Abdominal Pain: Intense, cramping pain due to swelling in the gastrointestinal tract, often accompanied by nausea, vomiting, or diarrhea.
• Airway Obstruction: Swelling in the throat or airway can be life-threatening and requires immediate medical attention.
• Skin Involvement: Non-itchy swelling of the skin, often mistaken for an allergic reaction or hives.
• Potential Triggers: Episodes may be triggered by stress, minor injuries, infections, medical or dental procedures, hormonal changes, or certain medications (e.g., ACE inhibitors).

This information is provided as a resource and is not intended to diagnose a condition or prescribe treatment. Please discuss any symptoms you may exhibit with your physician.