Transthyretin amyloid cardiomyopathy (ATTR-CM) is a serious progressive heart condition that can be fatal. It occurs when proteins called transthyretins (TTR) fold into odd shapes and begin to pile up inside the heart, which interferes with its ability to pump blood normally. This particular disease of the heart muscle can have similar symptoms to heart failure.
However, sometimes people with ATTR-CM don’t develop any early symptoms. In fact, some people don’t notice any symptoms at all until the disease is more advanced.
Healthcare professionals have been learning more about the disease and its symptoms, as well as who’s at increased risk, so they can pursue earlier diagnosis. Having more information is helpful because earlier diagnosis means earlier treatment, which can give people an increased chance of avoiding severe complications.
There are two types of ATTR-CM, these are known as:
- 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. People may have symptoms as early as 30, but developing later in life is more common.
- Wild-type ATTR-CM (wATTR-CM): This type is not caused by the transthyretin gene and doesn’t run in families. Symptoms of wild-type ATTR-CM can include carpal tunnel syndrome and pain and numbness in the hands and feet called peripheral neuropathy. This type is more common in older men.
Why early diagnosis matters
Traditionally, ATTR-CM was considered a rare disease. Its early symptoms are often similar to those of other types of heart failure like shortness of breath and swelling in the lower legs and feet. That similarity can lead to misdiagnosis in some cases.
Plus, ATTR-CM can also cause non-cardiac symptoms, such as carpal tunnel syndrome and neuropathy, or pain and numbness, in the hands and feet, that people might not initially associate with a heart condition.
Many people with wild-type ATTR-CM don’t receive a diagnosis until they are older. Many of them already have other age-related comorbidities that can affect their prognosis.
However, in recent years, many experts have begun to consider ATTR-CM an underdiagnosed disease, leading to more healthcare professionals now being aware of the disease, its risk factors, and its various manifestations.
Also, diagnostic testing has improved, giving doctors more information to use when deciding on treatment and even predicting a patient’s outlook.
As a result, many people with ATTR-CM are now receiving a diagnosis earlier than in the past.
A 2022 observational study suggests that early diagnosis brings many benefits, including milder disease stage at the time of diagnosis, as well as better cardiac structure and function. Also, people who receive a diagnosis earlier are less likely to face challenges due to untreated symptoms.
Earlier treatment matters, too
You can also begin treatment sooner if you receive an earlier diagnosis. In fact, early treatment of ATTR-CM can be considered essential because it can improve your survival chances.
According to research, disease-modifying therapies have been a game-changer in treating the hereditary type of ATTR-CM. These include inotersen (Tegsedi) and patisiran (Onpattro), which are drugs approved by the Food and Drug Administration (FDA) for treating neuropathy associated with hereditary transthyretin-mediated amyloidosis. They are more effective in addressing neuropathy when started early.
Until recently, the only drugs specifically approved by the FDA for the treatment of ATTR-CM were tafamidis (Vyndamax) and tafamidis meglumine (Vyndaqel).
Tafamidis is known as a TTR stabilizer because it binds with the transthyretin (TTR) protein, stabilizes it, and prevents it from folding up and making deposits inside the heart. Research from 2021 suggests that it’s also more effective when you start taking it earlier.
The FDA approved acoramidis (Attruby) in late 2024 to treat both hereditary and wild-type ATTR-CM. It may also improve people’s survival rate when they take it.
People with hereditary ATTR (hATTR) amyloidosis can consider taking vutrisiran (Amvuttra), an FDA-approved medication used to ease symptoms, such as amyloid deposits that can cause nerve damage.
Also, more drugs and treatments may be on the horizon, as scientists continue to investigate treatments and the most effective times and ways of delivering treatment.
If you have close family members who’ve had ATTR-CM, you might consider undergoing genetic testing to find out about your own risk. You could use that knowledge to keep an eye on symptoms or undergo earlier diagnostic testing.
However, even if hATTR-CM doesn’t run in your family, you could still develop wATTR-CM. It’s important to know that the risk seems to increase with age and research indicates that older men seem to be at the greatest risk.
If you do develop any new symptoms, do not brush them off even if you don’t know exactly what they mean. Contact your doctor to describe your symptoms and ask about being evaluated. If you do have ATTR-CM and received an early confirmed diagnosis, you can begin treatment sooner.