What causes hATTR amyloidosis?

Hereditary ATTR (hATTR) amyloidosis is caused by an inherited gene change (or mutation). There are 120 or more gene mutations known to be associated with hATTR amyloidosis. These mutations affect the function of a protein called transthyretin (TTR), a naturally occurring protein, that is made primarily in the liver and carries substances such as vitamin A.

How hATTR amyloidosis develops

Abnormal TTR

Abnormal TTR

In hATTR amyloidosis, a change (or mutation) in the TTR gene causes the protein to take on an abnormal shape and misfold.

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Amyloid deposits

Amyloid deposits

This change in shape causes the protein to build up in various parts of the body, including the nerves, heart, and digestive system. The collection of abnormal proteins is called amyloid deposits.

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Hereditary ATTR (hATTR) amyloidosis symptom areas

Symptoms of hATTR amyloidosis

Symptoms of hATTR amyloidosis

These amyloid deposits cause symptoms of the disease.