What causes hATTR amyloidosis?

Hereditary ATTR (hATTR) amyloidosis is caused by an inherited gene change (mutation). This affects the function of a protein called transthyretin (TTR), which is made primarily in the liver and carries substances such as vitamin A.

How hATTR amyloidosis develops

A change within a gene (gene mutation) causes the TTR protein to take on an abnormal shape and build up in the nerves, heart, stomach, and other organ systems.

Abnormal TTR

Abnormal TTR

A change within a gene causes TTR, a protein made mostly in the liver, to take on an abnormal shape.

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A change within a gene (gene mutation) causes the TTR protein to take on an abnormal shape and build up in the nerves, heart, stomach, and other organ systems.

Amyloid deposits

Amyloid deposits

This results in the buildup of clustered proteins, known as amyloid deposits, throughout the body over time.

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A change within a gene (gene mutation) causes the TTR protein to take on an abnormal shape and build up in the nerves, heart, stomach, and other organ systems.

Symptoms of hATTR amyloidosis

Symptoms of hATTR amyloidosis

The buildup of amyloid deposits leads to symptoms that can affect different parts of the body, including the nerves, heart, and digestive system. The damage caused by this disease can be disabling and life-threatening.