The progression of transthyretin amyloid cardiomyopathy (ATTR-CM) is closely related to the accumulation of amyloid fibrils in the heart, nerves and other organs.
The damage created by these amyloid deposits leads to cardiac symptoms similar to those of heart failure, as well as carpal tunnel syndrome, spinal stenosis and peripheral neuropathy.
What is ATTR-CM?
Transthyretin amyloidosis cardiomyopathy (ATTR-CM) is a rare progressive disease of the heart muscle that leads to congestive heart failure. It occurs when the transthyretin protein produced by the liver is unstable. Symptoms include fatigue; shortness of breath; irregular heart rate or palpitations; swelling of the legs, ankles and stomach; brain fog; wheezing; and dizziness. It often goes underdiagnosed because of a lack of awareness and knowledge of the disease. There is currently no cure for ATTR-CM.
There is no cure for ATTR-CM, with treatment focused on managing symptoms and slowing or stopping disease progression by stopping amyloid deposits in the body.
What are amyloid deposits?
The protein transthyretin (TTR) is produced in the liver and carries thyroid hormone and vitamin A around the body. In ATTR-CM, this protein either mutates or is unstable, then misfolds and creates clumps of amyloid fibrils.
Read more about ATTR-CM signs and symptoms
There are two types of ATTR-CM: wild-type ATTR-CM (wATTR-CM), which occurs as a result of a gene mutation, and hereditary ATTR-CM (hATTR-CM). Regardless of the disease’s origin, the body produces unstable TTR proteins that form clumps of amyloid fibrils that deposit in the body, causing progressive damage to the internal organs and nerves.
What role do amyloid deposits play?
Without treatment, amyloid fibrils continue to proliferate, and deposits accumulate throughout the body.
In ATTR-CM, the heart is the worst affected, with amyloid deposits causing the left ventricle to stiffen and thicken, making the pumping of blood to the body increasingly difficult. Symptoms include shortness of breath; fatigue; swelling in the legs, feet or stomach; irregular heartbeat or palpitations; and brain fog.
Amyloid deposits also build up in the liver, kidneys, spleen, peripheral nerves and the gastrointestinal tract, causing debilitating damage over time, with symptoms that can significantly affect quality of life in people living with ATTR-CM.
The unchecked buildup of amyloid deposits eventually leads to life-threatening complications such as cardiac arrest, heart failure and kidney failure.
Slowing or stopping amyloid deposits
The effective treatment of ATTR-CM used to rely on a liver transplant, which stopped disease progression without curing the disease.
In recent decades, therapeutic progress has led to medication that stops or slows disease progression through targeted therapies that bind to the protein and prevent it from misfolding and producing amyloid fibrils.
Clinical studies are ongoing in the search for additional treatment to manage symptoms, stop disease progression or even cure ATTR-CM. Several promising treatments are currently in the pipeline.
Be proactive in your treatment journey by staying up to date with ongoing clinical trials, and ask your doctor for updates on advances in medical treatments approved for use in ATTR-CM.
Sign up here to get the latest news, perspectives and information about ATTR-CM sent directly to your inbox. Registration is free and only takes a minute.
