Hereditary Angioedema (HAE)

Understanding Hereditary Transthyretin Amyloidosis (hATTR Amyloidosis)

Hereditary Transthyretin Amyloidosis (hATTR amyloidosis) is a progressive, genetic disease caused by mutations in the TTR (transthyretin) gene. These mutations result in misfolded TTR proteins that form amyloid deposits in various organs and nerves, leading to damage in the heart, peripheral nerves, and other tissues. hATTR 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 that may affect the face, lips, tongue, throat, extremities, or abdomen.
• Abdominal Pain: Intense, cramping pain associated with swelling in the gastrointestinal tract, often accompanied by nausea or vomiting.
• Airway Obstruction: Swelling in the throat or airway, which can be life-threatening and requires immediate medical attention.
• Skin Involvement: Non-itchy swelling of the skin that may be mistaken for an allergic reaction.
• Potential Triggers: Episodes may be precipitated by stress, minor injuries, dental procedures, or hormonal changes.

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.