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Updated on March 11, 2025
Transthyretin (TTR) is a type of protein that transports vitamins and hormones to locations throughout the body. Transthyretin amyloidosis (ATTR) is a rare condition where TTR proteins misfold and become unstable and abnormal in shape. These misfolded proteins clump together and form deposits called amyloids (keep in mind that this is a simplified explanation). TTR amyloids can build up in different tissues in the body, disrupting the normal function of organs and tissues.
Transthyretin amyloid cardiomyopathy (ATTR-CM) is a condition that occurs when TTR amyloids accumulate inside muscle tissues in the heart. This causes parts of the heart to thicken and stiffen (which is called cardiomyopathy). As a result, the heart pumps blood less effectively. This can lead to serious complications, including abnormal heart rhythms, heart failure, and life-threatening cardiac events.
There is no cure for ATTR-CM, but treatment can help manage the condition and prevent complications.
How is ATTR-CM treated?
Treatment for ATTR-CM falls into two main categories, supportive treatments and disease-modifying therapies.
Supportive treatments for ATTR-CM
Supportive treatments work to ease and manage any symptoms caused by having ATTR-CM, such as irregular heartrate, heart failure, and edema (fluid buildup). These can include both medications and dietary restrictions on sodium. TTR amyloidosis can also affect the kidneys and nervous system, and supportive therapies may also be needed to address symptoms that affect these parts of the body.
Disease-modifying therapies
Disease modifying therapies include gene stabilizers and gene silencers, also known as TTR stabilizers and TTR silencers.
- TTR stabilizers bind to TTR and help stabilize these proteins, preventing misfolding, breakdown, and the formation of amyloids.
- TTR silencers act on the gene (the section of DNA) that contains instructions for making TTR proteins. This reduces the amount of TTR and helps prevent amyloids from forming.
The goal of these treatments is to prevent the accumulation of TTR amyloids and prevent further damage to the heart and other parts of the body.
Questions to ask when starting a new treatment
Treatment may include both supportive therapies and disease-modifying therapies. As a person living with ATTR-CM or a caregiver, it’s important to understand the different therapies that you are taking and how these therapies meet different treatment goals. Also, treatment for ATTR-CM continues to evolve, and you may find yourself talking to your healthcare providers about newly available treatments.
Here are some questions to ask when prescribed a new treatment:
- What is the name of the therapy I am being prescribed? What is the dosage?
- How does this therapy work? What is the goal of using this therapy?
- How is this therapy administered and how often?
- How will we know if the therapy is working? What happens if this therapy does not work?
- What are the potential side effects of this therapy? Is there a risk of serious side effects?
- How can I expect to feel while using this therapy?
- Is there anything I need to avoid? For example, certain foods, alcohol, or activities.
- Who can I talk to if I have concerns about the cost of this therapy
- Can this therapy interact with other medications I am currently taking? Keep a list of all medications you take, including prescriptions, over-the-counter medications, and supplements (including herbal supplements).
Working with your healthcare team
Living with any condition that affects the heart is challenging. Living with a rare condition like ATTR-CM comes with added challenges. It’s uncommon, the causes are not fully understood, and there is less information available compared to other types of heart disease.
ATTR-CM is a different experience for everyone. Your best source of information will be a healthcare team, and it’s important to work with a healthcare team that is experienced in treating ATTR-CM.
