What causes hATTR amyloidosis?
Hereditary ATTR (hATTR) amyloidosis is caused by an inherited gene variant, or change, in the transthyretin (TTR) gene. This change in the TTR gene may also be referred to as a mutation.
There are more than 120 gene variants known to be associated with hATTR amyloidosis. These variants affect the function of 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 variant in the TTR gene causes the protein to take on an abnormal shape and misfold.
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.
Symptoms of hATTR amyloidosis
Symptoms of hATTR amyloidosis
These amyloid deposits cause symptoms of the disease.
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An Alnylam Patient Education Liaison (PEL) can answer questions about this disease
