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December 23, 2022

Transthyretin Amyloid Cardiomyopathy (ATTR-CM): an underdiagnosed and life-threatening disease

Being diagnosed with transthyretin amyloid cardiomyopathy (ATTR-CM) has historically been particularly challenging, due to low awareness amongst healthcare professionals, as symptoms are often consistent with heart failure. ATTR-CM is associated with an average life expectancy of approximately two to six years post-diagnosis, but under-diagnosis is a clear issue, with less than 1% of people living with the disease having a diagnosis.

If you, or anyone you know, lives with amyloid cardiomyopathy (ATTR-CM), we are currently conducting a study on ATTR-CM in the USA to better understand the impact of ATTR-CM and available treatment options.

ATTR-CM and heart failure

What is Transthyretin Amyloid Cardiomyopathy (ATTR-CM)?

ATTR-CM is a form of ATTR amyloidosis and is a protein disorder where clumps of irregular proteins build up in the patient’s heart and body over time. This leads to a stiffening of the heart’s left ventricle, meaning the heart can’t effectively pump blood around the body. This is called restrictive cardiomyopathy, which is a type of heart failure.

What are the common symptoms?

This condition often presents with symptoms associated with heart failure, such as fatigue, shortness of breath, irregular pulse and palpitations, swelling in the legs, chest pain, enlarged liver, fluid in the abdomen, and poor appetite.

How is ATTR-CM diagnosed?

Diagnosis can be difficult as symptoms are normally associated with heart failure. However, typical symptoms may lead to a routine cardiac test such as an electrocardiogram or an echocardiogram. Once detected, more specialised tests such as a cardiac MRI, nuclear medicine scan of the heart or a heart muscle biopsy of the affected organ are needed, as well as genetic studies which look for hereditary ATTR-CM.

Transthyretin Amyloid Cardiomyopathy - ATTR-CM

Is there more than one type?

There are two types of ATTR-CM:

Hereditary ATTR-CM: There is a mutation in the transthyretin gene, which results in protein deposits in the heart, nerves and sometimes the kidneys and other organs

• This can run in the family
• Symptoms can start as young as 20
• It is more common in specific regions of Portugal, Sweden, and Japan
• Some mutations are more common in people of Irish ancestry or African descent

Wild-type ATTR-CM: This is usually associated with aging and the protein becomes unstable and misfolds

• There is no mutation in the gene, and it is not hereditary
• It affects the heart and can cause peripheral neuropathy (pain and numbness in the hands and feet).
• Symptoms usually start after the age of 65
• Some patients may have no symptoms and others may progress to end-stage heart failure

Is there a cure for ATTR-CM?

There isn’t currently a cure for ATTR-CM, and there is no way for the body to get rid of existing amyloid (protein) deposits. However, medications focusing on easing heart failure symptoms can halt disease progression by slowing or stopping the build-up of protein deposits. In some cases of advanced heart failure, heart transplantation may be an option.

If you, or anyone you know, lives with amyloid cardiomyopathy (ATTR-CM), we are currently conducting a study on ATTR-CM in the USA to better understand the impact of ATTR-CM and available treatment options. We would love to hear from you to help us guide the development of future therapies, and you will be paid for your time.

*This study is subject to availability

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If you, or anyone you know, lives with ATTR-CM, we are currently conducting a study on ATTR-CM in the USA to better understand the impact of ATTR-CM and available treatment options. We would love to hear from you to help us guide the development of future therapies, and you will be paid for your time.

*This study is subject to availability

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