How is hATTR-PN Diagnosed?

Many people who have hereditary transthyretin amyloid polyneuropathy (hATTR-PN) go through a long and difficult journey before they get a correct diagnosis. This is because the condition often looks like other common health issues.¹

You may have been told you had carpal tunnel syndrome, diabetic neuropathy, or heart failure before you found the right answer. It is normal to feel frustrated by these delays and misdiagnoses.^1,2

Transthyretin amyloidosis (ATTR) happens when a protein called transthyretin changes shape. These proteins clump together and form "amyloid deposits" in the body. When these clumps build up in the nerves, it is called polyneuropathy. Because these symptoms can appear slowly, doctors might not suspect hATTR-PN right away.^1,2

The 3 main steps to diagnosis

Doctors use 3 main types of tests to confirm if you have hATTR-PN. These tests help them see the amyloid deposits and find the cause.^1-4

The "rule out" test

The first step is often a blood or urine test. Doctors do this to rule out a different, more common type of amyloidosis called AL amyloidosis. AL amyloidosis requires different treatments. By checking your blood and urine for certain proteins, doctors can make sure they are looking at the right condition.^3,4

The "spotting" test

If the first tests suggest amyloidosis, doctors need to see the deposits in your body. They may use imaging tests or a tissue biopsy.^1,3,4

• Imaging – A pyrophosphate (PYP) scan is a common tool. It uses a small amount of a radioactive tracer to highlight amyloid deposits in the heart.
• Biopsy – A doctor may take a small sample of tissue, such as a fat pad biopsy from the belly or a sample from an organ. They look at this tissue under a microscope to see if amyloid is present.

The "confirmation" test

The final step is genetic testing. This test is a simple blood or saliva sample. It looks at the TTR gene to see if there is a mutation. This test is the only way to confirm if the amyloidosis is the hereditary type.^1,3,4

Understanding the "H" in hATTR

It is important to know the difference between the 2 main types of ATTR amyloidosis:^1-5

• Wild-type ATTR (wATTR) – This type is related to aging. It is not caused by a gene mutation that you inherit from your parents.
• Hereditary ATTR (hATTR) – A change in your DNA causes this type. The "H" stands for hereditary, which means it runs in families.

The genetic test is the deciding factor. It changes a diagnosis from "amyloidosis" to "hereditary amyloidosis." Knowing you have the hereditary type helps your doctors choose the best treatment for your specific needs.^1,2,5

Talking to your family

Since hATTR-PN is a genetic condition, your diagnosis affects your relatives, too. If you have the TTR gene mutation, your parents, siblings, and children each have a 50 percent chance of carrying that same gene.^2,5

Sharing your diagnosis can be a powerful way to help your loved ones. If they carry the gene, they can start regular check-ups early. Early detection often leads to better outcomes. You may want to suggest that they speak with a genetic counselor. A counselor can explain the risks and help them decide if they want to be tested.²

Getting a diagnosis for hATTR-PN is a major milestone. While the journey may have been long, having clear answers allows you and your family to take control of your health.