There is still no cure for transthyretin amyloid cardiomyopathy (ATTR-CM), so treatment focuses on symptom management and slowing or stopping disease progression.
Treatment will include transthyretin (TTR) stabilizers, disease-modifying therapies that stabilize the TTR structure and stop the protein transthyretin from misfolding.
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.
They have been shown to have a positive effect by reducing symptoms, hospitalizations and death. Early diagnosis and the right treatment approach can improve quality of life and contribute to better outcomes for people living with ATTR-CM.
What are TTR stabilizers?
TTR stabilizers are targeted therapies that bind to the TTR protein, stabilize it and prevent it from misfolding and depositing amyloid fibrils. In ATTR-CM, amyloid fibrils accumulate in the heart, causing the wall of the left ventricle to stiffen and thicken, impeding the pumping of blood to the body.
Read more about ATTR-CM treatment and care
TTR stabilizers are administered orally and are effective in both subtypes of ATTR-CM, the wild-type ATTR-CM (wATTR-CM), which is more common and associated with aging, and hereditary ATTR-CM (wATTR-CM), which is caused by the genetic mutation of the TTR protein.
Patients taking TTR stabilizers are carefully monitored to track the benefits of the treatment. Regular blood tests and electrocardiograms are required, as are tests to check cardiac function, liver function, renal function, thyroid function and any associated adverse events.
Studies have shown TTR stabilizers to be most beneficial in the early stages of ATTR-CM, reducing hospitalizations and improving long-term survival. More evidence is required to better understand its role in treating later stages of the disease.
The benefit of TTR stabilizers on quality of life
People living with ATTR-CM have to manage a symptom burden that includes fatigue; breathlessness; coughing or wheezing; confusion or brain fog; swelling of legs, ankles and feet; a bloated stomach; and a rapid or irregular heartbeat. In addition, each subtype has its own set of symptoms, such as polyneuropathy in hTTR-CM, which causes numbness and tingling in the hands and feet. As ATTR-CM is a progressive disease, symptoms gradually worsen over time.
By preventing the TTR protein from misfolding and depositing amyloid fibrils, TTR stabilizers reduce the symptom burden for patients. The relief of being able to live a more active life, with fewer symptoms and without the constant worry of predicted life expectancy, dramatically improves quality of life for patients and their families.