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Transthyretin amyloid cardiomyopathy (ATTR-CM) is a serious and progressive cause of heart failure. It occurs when proteins begin to pile up inside your heart muscle instead of circulating in your bloodstream. Eventually, the left ventricle of your heart has trouble pumping out enough blood.
As with many other serious conditions, it’s essential to confirm a diagnosis for ATTR-CM as early as possible. If you know whether you’re at risk of developing ATTR-CM, you’ll have a better chance of getting an early diagnosis and starting treatment sooner, when it’s likely to be more effective.
There are two types of ATTR-CM:
- Hereditary ATTR-CM (hATTR-CM): This type runs in families due to a variant in the transthyretin gene. It causes amyloid deposits in the heart, nerves, kidneys, and other organs. Symptoms may occur as early as 30 years of age, but people more commonly develop this condition later in life.
- Wild-type ATTR-CM (wATTR-CM): This type is not caused by the transthyretin gene and does not run in families. Symptoms can include carpal tunnel syndrome and peripheral neuropathy (pain and numbness in your hands and feet). This type is more common in older men.
Several groups of people are at risk for ATTR-CM. Some people are at risk of developing hATTR-CM, while others are at risk of developing wATTR-CM.
People with a family history of ATTR-CM
If you have a variant of the transthyretin gene that you’ve inherited from one of your parents, you have a greater risk of developing hATTR-CM. In fact, because the disease is autosomal dominant, you can develop it if you inherit just one copy of the mutated gene.
There are numerous variations of hATTR-CM, some of which are more common in particular parts of the world. According to the American Heart Association, the most common variant in the United States is one that occurs in 3% to 4% of Black people.
Wild-type ATTR-CM is more common than the hereditary version. It tends to occur mostly in older adults, especially older males.
People who have cardiac conditions associated with aging, such as aortic stenosis, atrial fibrillation, and heart failure with preserved ejection fraction (HFpEF), may have a higher risk
of developing wATTR-CM.
What you should know about heart failure with preserved ejection fraction
HFpEF is a common type of heart failure. With this condition, you might have signs of heart failure, but your heart’s left ventricle still ejects a normal proportion of blood with each beat.
ATTR-CM has been an under-recognized cause of HFpEF, although research suggests that ATTR‐CM is found in 6% to 15% of people with HFpEF.
ATTR-CM tends to be underdiagnosed. Earlier diagnosis allows treatment to start sooner, and newer treatments are more effective. Doctors are now alerted to the presence of symptoms that could indicate a case of ATTR-CM, but there have also been developments in risk assessment.
Several different genetic variants may cause ATTR-CM, and some are more common in certain areas of the world.
If you know that one of your close relatives has a diagnosis of hATTR-CM, you might want to talk about genetic testing with a doctor. Typically, this type of genetic testing only requires that you provide a blood or saliva sample or get your cheek swabbed for cells to test.
A genetic counselor can talk with you about how this disease might affect you and can provide support to you.
Machine learning predictions
Genetic testing can’t help predict the risk of developing wATTR-CM, but technology may be able to help.
For example, the authors of a 2021 study analyzed machine learning models to assess their ability to use medical claims data from electronic health records to help identify people with wATTR-CM. They found that certain codes could be used to help predict the likelihood of ATTR-CM.
The study found that, in addition to heart failure, the following cardiac conditions predicted the strongest risk:
- pericardial effusion/pericarditis
- atrial flutter
- cardiac conduction disorders
- abnormal serum enzymes, such as elevation in cardiac troponin
The data also suggests that carpal tunnel syndrome, ascites (fluid buildup in the abdomen), and synovitis or tenosynovitis also pointed to a greater risk of developing ATTR-CM. This information could help you and your doctor decide whether you might need to be evaluated for ATTR-CM.
A 2022 study suggests that a point-based score could also be useful for predicting increased risk of ATTR-CM.
The researchers created a score that could predict the risk in people with HFpEF. They incorporated three clinical variables (age, sex, and hypertension diagnosis) and three cardiac variables (ejection fraction, posterior wall thickness, and relative wall thickness).
The score ranges from -1 to 10. The higher the score, the greater the risk. This type of assessment could help healthcare professionals know when to pursue more testing.
However, caution may be warranted in relying too much on this score. Some other research has suggested that the score may not be as sensitive in picking up on the disease in Black people or women, depending on the score cutoff that is used.
What you can do with this information
Knowing your risk for developing ATTR-CM gives you the chance to understand your health choices and to feel confident about treatment decisions. You can talk with your doctor about your risk and ask whether you should undergo any particular type of testing. You can also keep an eye on symptoms that might indicate heart failure or nerve problems related to amyloidosis.
The earlier you get a diagnosis, the sooner you can start treatment. With advances in treatment, you may be able to slow down or even stop the progression of your disease.