What steps should be taken after a positive PYP scan for ATTR-CM, and is a biopsy needed?
You're on the right track. After a positive PYP scan, the next steps typically include genetic testing to determine whether your dad has hereditary ATTR or wild-type ATTR amyloidosis. This distinction is important for treatment Show Full Answer
What steps should be taken after a positive PYP scan for ATTR-CM, and is a biopsy needed?
You're on the right track. After a positive PYP scan, the next steps typically include genetic testing to determine whether your dad has hereditary ATTR or wild-type ATTR amyloidosis. This distinction is important for treatment decisions and family screening.
Regarding the biopsy: A positive PYP scan combined with the absence of light chain proteins in blood tests can often confirm ATTR amyloidosis without requiring a tissue biopsy. The genetic testing will help distinguish between hereditary and wild-type forms.
Your doctor will likely also run blood tests to check for light chain proteins (to rule out AL amyloidosis) and may perform additional tests to assess organ function and disease progression. What's the difference between hereditary and wild-type ATTR-CM?
Wild-type ATTR amyloidosis is more common in older men (typically diagnosed around age 75 or older) and is not inherited. It develops when normal TTR protein becomes unstable and forms amyloid deposits, primarily affecting the heart.
Hereditary ATTR amyloidosis is caused by genetic mutations passed down in families and can affect both men and women equally. It may affect multiple organs including the heart, nerves, kidneys, and autonomic nervous system.
The key difference: Wild-type has a normal TTR gene but still produces amyloid, while hereditary ATTR involves specific gene mutations. Wild-type is not passed to family members, but hereditary ATTR can be. What about treatment and family monitoring for hereditary ATTR?
If genetic testing shows hereditary ATTR, family members can be tested for the same mutation. However, not everyone with the gene mutation develops symptoms—having the mutation doesn't guarantee someone will develop amyloidosis.
For family members who test positive for the mutation but have no symptoms, the approach typically involves close monitoring rather than immediate treatment. They would be watched for signs of organ damage and symptoms, with treatment starting when needed.
Treatment goals include reducing amyloid protein production and managing symptoms. Several medications are now available that can block TTR gene activity or stabilize the protein, which have significantly improved outcomes.
It's important to wait for your dad's healthcare team to guide these decisions based on his specific situation and test results.
November 9, 2025
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