What causes wild-type vs hereditary ATTR amyloidosis?
The main difference between these two types is what causes the TTR protein to misfold.
Hereditary ATTR (hATTR) amyloidosis is caused by a genetic mutation in the TTR gene that's passed down from parent to child. If you have hATTR, each of your children has a 50% chance Show Full Answer
What causes wild-type vs hereditary ATTR amyloidosis?
The main difference between these two types is what causes the TTR protein to misfold.
Hereditary ATTR (hATTR) amyloidosis is caused by a genetic mutation in the TTR gene that's passed down from parent to child. If you have hATTR, each of your children has a 50% chance of inheriting the mutation. Over 120 different TTR mutations have been identified.
Wild-type ATTR amyloidosis happens when normal TTR proteins become unstable with age. It's not inherited and isn't caused by a genetic mutation—it's considered age-related.
Who gets affected and when?
hATTR can appear earlier in life, sometimes as young as age 20, though symptoms often start around age 68. Anyone can develop it regardless of gender.
Wild-type ATTR typically develops after age 60 and is more common in men.
Which organs are affected?
hATTR can affect your nerves, heart, or both. You might experience numbness, tingling, weakness, digestive issues, or heart symptoms like shortness of breath.
Wild-type ATTR usually affects the heart primarily, though some people develop carpal tunnel syndrome or spinal stenosis before heart symptoms appear. Why is testing important?
Genetic testing helps determine which type of ATTR amyloidosis you have by looking for TTR gene mutations. If a mutation is found, it's hATTR. If no mutation is found, it's wild-type.
Understanding your specific type matters because:
- Different mutations can affect when symptoms start and how severe they become
- Some treatments are only approved for certain types
- Your genetic results guide your healthcare provider to the best treatment options
- If you have hATTR, your close relatives (parents, children, siblings) have a 50% chance of carrying the same mutation and should consider testing
Genetic counseling can help you understand your results, discuss treatment options, and navigate conversations with family members about their potential risk.
February 6