How is ATTR amyloidosis diagnosed?

Many tests can help diagnose amyloidosis. A biopsy (the removal of a small piece of tissue) of the affected organ is the most useful test. To take a biopsy from the heart, a small, thin, hollow tube (catheter) is placed into a vein in your neck and then guided into the right side of your heart. A few small pieces of the heart muscle are removed.

A pathologist will examine the tissue with a microscope and perform special tests to identify the exact protein causing the amyloidosis.

A bone scan called a technetium pyrophosphate (TcPYP) scan can detect ATTR in the heart (see video). A positive TcPYP scan, along with blood and urine tests to rule out other forms of amyloidosis, can confirm the diagnosis without the need for a heart biopsy. When ATTR amyloidosis is confirmed, a blood test is used to find out if the ATTR is hereditary or wild-type.

Several other tests may be used to check organ function:

  • Blood samples to check the kidneys, heart, and liver.
  • An electrocardiogram (EKG) and echocardiogram (ultrasound of the heart) to check the heart.
  • An MRI of the heart may also be done.

Family members of someone with hereditary ATTR amyloidosis have a higher risk of also having the condition. Close family members, such as parents, siblings and children have a 50% chance of having the mutation. If you have hereditary ATTR amyloidosis, you should talk to a genetic counselor to learn more about the risk of the condition among other family members and genetic testing.

Last reviewed by a Cleveland Clinic medical professional on 06/02/2020.

References

  • Cleveland Clinic Amyloidosis Center. Accessed 6/2/2020.
  • Donnelly JP, Hanna M. Cardiac amyloidosis: An update on diagnosis and treatment. CCJM 2017;84(12 suppl 3):12-26. Accessed 6/2/2020.
  • The National Kidney and Urologic Diseases Information Clearinghouse: Amyloidosis and Kidney Disease. Accessed 6/2/2020.
  • Amyloidosis Foundation. FAQs. Accessed 6/2/2020.
  • National Organization for Rare Disorders. Amyloidosis. Accessed 6/2/2020.

Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy