Uncover more about hereditary ATTR amyloidosis (hATTR)

hATTR is caused by a genetic variant, or change, in the transthyretin (TTR) gene passed down through family members. The gene variant causes the TTR protein to misfold and build up in the body as amyloid deposits.

It's more common in certain ethnicities

Although anyone can be at risk for this disease, it is more common for certain ethnicities, such as people of African, Brazilian, French, Irish, Japanese, Portuguese, and Swedish descent.

Most common genetic variants in the United States

There are more than 120 gene variants known to be associated with the disease. The most common variants in the United States are the V122I, T60A, and V30M variants.

It is estimated that approximately 1 in 25 African Americans may carry the V122I variant. This variant of the disease more commonly affects African Americans starting in their 50s and 60s. Symptoms typically involve the heart and the nerves leading to a range of symptoms.

The V30M variant more commonly affects Portuguese and Japanese patients starting in their 30s and into their 60s with symptoms typically involving the nerves.

The T60A variant more commonly affects Irish patients starting in their early 60s. Symptoms often involve the nerves and heart.

How is hATTR passed down?

If one parent has hATTR, each child has a 50% chance of inheriting the genetic variant that may cause the disease.

A family member may inherit the TTR gene variant, but having the variant does not necessarily mean that they will develop hATTR.

Genetic testing is crucial

Because hATTR can affect the family, it is important to determine if the cause of your symptoms is genetic. If your doctor thinks you may be experiencing symptoms of hATTR, or if you have a family member living with the disease, your doctor may recommend genetic testing.

Genetic testing is needed to:

Determine whether you have the hereditary form of ATTR. Treatment decisions can vary based on disease type, so it’s important to confirm whether you carry a gene variant associated with hATTR
Indicate whether other family members should get tested to understand their own risk of hATTR

You can learn more about an option for genetic testing and other tests on the Seeking a Diagnosis page. It's important to talk to your doctor if you suspect that you might be at risk for hATTR to determine the best plan of action.