How does ATTR cardiomyopathy impact your quality of life?

Quality of life refers to a person’s perception of their overall well-being and all the factors that affect their overall well-being—physical health, mental health, stress, finances, social life, relationships. It can also be thought of as a person’s assessment of the positive and negative aspects in their life.

Because people prioritize the different aspects of their life in different ways, each person’s definition of quality of life will be somewhat unique.

Quality of life is an important topic to discuss when managing an ongoing health condition, and it can be an important thing to consider when making decisions about treatment.

Here, we look at how transthyretin amyloid cardiomyopathy (ATTR-CM) can impact quality of life, and why quality of life should be a consideration when treating this condition.

ATTR-CM and quality of life

ATTR-CM is a rare disorder that causes a buildup of misshapen transthyretin (TTR) proteins in the heart muscle. This buildup of proteins causes the heart muscle to become stiff and rigid. This can cause irregular heart rate, and it can lead to heart failure, a condition where the heart cannot pump enough blood to keep up with the body’s needs.

Hereditary ATTR-CM is caused by inherited genetic mutations to the TTR gene, the gene that controls the production of transthyretin proteins. The more common type, wild-type ATTR-CM, occurs without an inherited mutation. Both types typically occur in older adults and are more common in males.

ATTR-CM can result in many symptoms that affect and impact a person’s quality of life:

• Fatigue
• Shortness of breath, especially with exertion and activity
• Dizziness and/or fainting
• Chest congestions, coughing, and/or wheezing
• Difficulty concentrating, difficulty thinking, or confusion
• Edema (swelling due to fluid buildup), often in the feet, ankles, and legs
• Insomnia, obstructive sleep apnea, and sleep disturbances
• Irregular heart rate

In addition to affecting the heart muscle, transthyretin proteins can also form deposits in nerve tissue. This can cause neuropathy (damage to nerves), and symptoms such as pain, tingling, muscle weakness, and loss of sensation. Damage can also occur in the autonomic nervous system, the parts of the nervous system that control functions like respiration, blood pressure, and digestion.

Treatment for ATTR-CM

Without treatment, ATTR-CM typically progresses, causing declining health and more severe symptoms. Treatment will depend on the type of ATTR-CM a person has and the severity of their symptoms. Therapies to ease and manage symptoms of heart failure, irregular heart rate, and neurological symptoms are often a part of treatment.

For hereditary ATTR-CM, gene stabilizer and gene silencer therapies may be treatment options. Gene stabilizers stop misshapen transthyretin proteins from clumping together and forming deposits. Gene silencers block the gene that produces the abnormal transthyretin proteins.

Making quality of life a focus of treatment

Quality of life should be a part of your conversations with your healthcare providers. Being prepared for an appointment can help. Take time to write down questions, concerns, and what you want to discuss before your appointment.

Here are some questions to help you get started:

• How do your symptoms affect different aspects of your life, such as relationships, hobbies, work, and day-to-day tasks?
• What changes have you noticed in your day-to-day life? Has anything become more difficult?
• How would you describe your moods, emotions, stress level, and thoughts? Have you noticed any changes?
• Do you have any concerns about treatment, such as cost, side effects, or getting to and from appointments?

Talk to your healthcare providers about what can be done to address these aspects of care. For example, services that provide health with transportation, food delivery, or other tasks.

It can also help to talk to others who are living with similar conditions. Consider connecting with people living with ATTR-CM or other forms of heart failure with an online or in-person support group.