Transthyretin amyloid-cardiomyopathy (ATTR-CM) is a type of amyloidosis that affects the heart. In people with ATTR-CM, certain abnormal proteins build up in the heart and damage the heart muscle, which can lead to heart failure (when the heart can’t pump enough blood to meet the body’s needs).

Older men are most likely to be diagnosed with ATTR-CM, according to the American Heart Association, but other groups also have an increased risk of developing the condition. Importantly, ATTR-CM is known to be underdiagnosed.

ATTR-CM can look like other, more common types of heart disease, which can make it difficult to diagnose. Knowing whether you might be at increased risk can help you talk with your doctor about testing and diagnosis. Treatment can help slow disease progression and improve quality of life.

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Here’s more on the people most affected by ATTR-CM.

Which Groups Are Most Likely To Develop ATTR-CM?

Groups at higher risk of ATTR-CM include older men, Black Americans, people with a family history of ATTR-CM, and people from certain geographic areas. It’s important to know that ATTR-CM is uncommon, and most people in higher-risk groups won’t develop the disease.

There are two types of ATTR-CM — hereditary ATTR-CM (hATTR-CM) and wild-type ATTR-CM (ATTRwt-CM):

• Hereditary ATTR-CM — This condition is caused by a genetic variant that is inherited from a parent.
• Wild-type ATTR-CM — This type occurs with aging and isn’t caused by a genetic variant. ATTRwt-CM is more common than hATTR-CM.

Older Men

ATTR-CM is known to primarily affect men over age 60. Older males are more frequently affected by ATTR-CM, particularly wild-type ATTR-CM, according to the American Heart Association. This may be because ATTRwt-CM is associated with aging.

Some potential reasons wild-type ATTR-CM may be diagnosed more often in men than women include:

• Biological differences — Hormonal and other biological differences may play a role, although evidence is limited.
• Diagnosis biases — Current approaches to heart conditions such as ATTR-CM may be less likely to detect the disease in women, according to the Amyloidosis Research Consortium. Women with heart symptoms may also receive nonspecific diagnoses, which can delay testing for ATTR-CM.

Women with hATTR-CM are typically diagnosed at an older age than men with hATTR-CM. Researchers are studying whether women with the condition may be overlooked or diagnosed later, according to the Amyloidosis Research Foundation.

Black Americans

About 3.4 percent of African Americans carry a particular V122I gene mutation, according to Rare Disease Advisor. Also called V142I, this mutation is one of the most common genetic causes of hATTR-CM in the U.S. and is especially common among people with West African ancestry.

Black Americans can also develop wild-type ATTR-CM. In one study of older Black adults with heart failure and increased wall thickness who had ATTR-CM, 63 percent had wild-type ATTR-CM.

Problem of Underdiagnosis

Despite the higher prevalence of the V122I variant among Black Americans, ATTR-CM can go undiagnosed in this population.

Some people with a disease-causing TTR variant report no known family history of ATTR-CM, which could delay diagnosis and treatment.

One study found that Black people with lower socioeconomic status may have a greater risk of underdiagnosis and worse outcomes from ATTR-CM compared with white people. The study also found that Black people were generally diagnosed with more advanced heart disease and had worse outcomes than white people with ATTR-CM.

People With a Family History of hATTR-CM

People with a family history of hATTR-CM may be at increased risk of developing the disease. More than 120 mutations in the TTR gene have been linked to hereditary ATTR amyloidosis.

Genetic testing can identify a disease-causing TTR variant and help determine whether ATTR amyloidosis is hereditary. Other tests can detect amyloid deposits and check how well the heart and other organs are working.

People From Certain Countries and Regions

Some TTR variants are more common among people with ancestry from particular parts of the world. For example, the V30M variant is more common among people with ancestry from Japan, Sweden, Spain, Portugal, and France. The T60A variant is found more often in people of Irish ancestry and is a common variant in the UK.

What Steps Should You Take if You’re in a Higher-Risk Group?

If you’re concerned about your individual risk factors for ATTR-CM, talk with your doctor, particularly if you have a parent with ATTR-CM or you have cardiomyopathy (disease of the heart muscle) or signs of heart problems.

Here are some proactive steps to take if you’re concerned about your risk:

• Ask about genetic counseling — If one of your parents has hATTR-CM, you can talk with your doctor about genetic counseling and whether genetic testing is appropriate for you.
• Learn the signs of ATTR-CM and heart failure — Symptoms such as fatigue, shortness of breath, irregular heartbeat, and swelling in legs and feet can be signs that you should talk to your doctor or a cardiologist.
• Learn about other signs of ATTR amyloidosis — Some people with ATTR-CM experience nerve symptoms, such as tingling in the hands and feet. Carpal tunnel syndrome, which can cause pain, numbness, tingling, or weakness in the hand, can also be associated with ATTR amyloidosis.

Fortunately, diagnostic tools for identifying ATTR-CM have improved considerably in recent years. These advances are helping doctors identify more people with ATTR-CM.

Early treatment can help slow disease progression, making early diagnosis important.

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