What is TTR Amyloidosis?
If you or a loved one has been diagnosed with TTR amyloidosis, you’re learning about a condition that can affect many parts of the body. TTR amyloidosis happens when a protein called transthyretin (or TTR) doesn’t fold the right way. When this happens, the protein clumps together and builds up in your tissues and organs. These clumps are called amyloid deposits.
Normally, the TTR protein helps move vitamin A and thyroid hormones through your blood. But when it misfolds, it can cause problems in the heart and nerves, and sometimes in the kidneys, eyes, or digestive system.
Two main types of TTR amyloidosis:
- Hereditary (ATTRv or hATTR): Caused by a genetic change in the TTR gene that runs in families
- Wild-type (ATTRwt): Not passed down in families and most often affects men over age 70
Where TTR amyloidosis shows up:
- In the heart (ATTR-CM): You might feel short of breath, have swelling in your legs, feel chest discomfort, or feel very tired
- In the nerves (ATTR-PN): You might have numbness or tingling in your hands and feet, pain, or digestive problems
- In both areas: Some people have symptoms in their heart and nerves
The good news? The way we treat TTR amyloidosis has changed a lot in recent years. There are now several new treatments available that are helping people feel better and live longer, and more are being studied.
New TTR Amyloidosis Therapies Available Now
The way we treat TTR amyloidosis has changed dramatically. We now have treatments that do more than just manage symptoms—they actually work to slow down or stop the disease itself. As a result, they may help patients feel better and live longer.
TTR Stabilizers These medicines keep the TTR protein in the right shape so it can’t break apart and form clumps. The first one was approved in 2019.
Gene Silencing Therapies These treatments tell your liver to make less TTR protein. This means less protein that can misfold and cause problems.
These treatments have helped many people live longer and feel better. And researchers continue working on even more advanced therapies.
New Therapies in Development
Scientists are testing several exciting new approaches that could offer even more options:
Gene Editing with CRISPR This cutting-edge treatment uses CRISPR-Cas9 to make a lasting change to the TTR gene in your liver. The big benefit? You might only need one treatment instead of ongoing therapy. This is currently being studied in clinical trials.
Amyloid Removal Therapies These new antibody treatments are designed to clear out amyloid deposits that have already built up in your body. They’re still in early research but could help reverse some damage from the disease.
Prevention for hATTR/ATTRv: Researchers are also studying whether treatments can prevent symptoms from starting in people who carry a TTR gene change but don’t have symptoms yet. These prevention trials could help family members who test positive for a genetic change stay healthy longer.
Genetic Testing is Essential for Understanding TTR Amyloidosis
Genetic testing is important for several reasons:
For identifying amyloidosis type and treatment Genetic testing can find changes in your TTR gene that can cause hereditary TTR amyloidosis. This helps your doctor:
- Know if you have hereditary (ATTRv) or wild-type (ATTRwt) amyloidosis
- Choose the best treatments for your specific type—some newer therapies only work for people with hereditary TTR amyloidosis
For your family If you have hereditary TTR amyloidosis (ATTRv), your children, siblings, and parents have a 50% chance of having the same genetic change. Testing can help them:
- Find out if they carry the genetic change before symptoms start
- Get early treatment that may work better than waiting for symptoms
- Access clinical trials for prevention
- Plan ahead with their doctors
At Genome Medical, our genetic counselors specialize in conditions like TTR amyloidosis. In a genetic counseling appointment, they can review your personal and family history, explain the testing process, and help you understand what your results mean for you and your family. If you have questions about genetic testing or would like to schedule an appointment, you can contact us directly. We also offer genetic counseling for family members who may be at risk.
Finding Clinical Trials
Clinical trials test new treatments to see if they’re safe and if they work. Joining a trial can give you access to new therapies before they’re available to everyone.
How to find trials:
- Search ClinicalTrials.gov using terms like:
- “TTR amyloidosis”
- “ATTR-CM” (for heart involvement)
- “ATTR-PN” (for nerve involvement)
- Check with major medical centers and amyloid treatment centers
- Ask your cardiologist or neurologist about trials near you
At Genome Medical, our patients can choose to be contacted about clinical trials that match their specific situation. Connecting people with potentially life-changing treatments is one of the most meaningful parts of our work.
Looking Ahead
The future for people living with TTR amyloidosis is brighter than ever. What used to be hard to diagnose and treat now has multiple new approved treatments and new ones in development.
Whether you were just diagnosed or have been living with TTR amyloidosis for a while, there are good reasons to feel encouraged. With earlier diagnosis, better treatments, and ongoing research, many people with TTR amyloidosis are living longer, more active lives.
At Genome Medical, we’re committed to keeping up with new developments and helping you and your family get the best care possible. We’ll continue to share updates about new treatments, research findings, and ways to take part in advancing care for TTR amyloidosis.
