Hereditary transthyretin (hATTR) amyloidosis
What is hATTR amyloidosis?
hATTR amyloidosis is a rare, progressive, genetic disease caused by the build-up of amyloid deposits in the body. These deposits build up in many tissues and organs and can make a person sick by damaging the organs where they are found. With hATTR amyloidosis, almost every part of the body is at risk, including the nerves, heart, kidneys and digestive tract. The symptoms of hATTR amyloidosis usually start between 30–50 years of age and can involve multiple parts of the body.
The global prevalence of hATTR amyloidosis is an estimated 10,186 people worldwide. The estimated Canadian prevalence of hATTR amyloidosis is 12–270 per 1 million people.
What causes hATTR amyloidosis?
hATTR amyloidosis is a hereditary disease. Hereditary diseases are genetic disorders where a change in a gene (called a genetic mutation) is passed down through family members. It is the passed down mutation that can cause the disease.
In hATTR amyloidosis, a genetic mutation changes the structure of the transthyretin (TTR) amyloid protein, causing it to fold incorrectly, stick together and build up throughout the body. The misfolded proteins are sticky and clump together in tissues and between the body’s cells to form structures called amyloid deposits. Amyloid deposits cause disease by damaging the structure and the function of the organs where they are found. They can affect almost any body system including the nerves, heart and digestive tract.
What are the signs and symptoms?
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