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| Part of the Getting the Best Care for ATTR Amyloidosis series |
Transthyretin amyloid cardiomyopathy (ATTR-CM) is a serious heart condition that often goes undetected, especially in women. ATTR-CM is a type of cardiac amyloidosis. In ATTR-CM, abnormal proteins build up in the heart. This stiffens the heart muscle, preventing it from filling efficiently and leading to heart failure. According to WomenHeart, the National Coalition for Women With Heart Disease, women with ATTR-CM are more likely to be misdiagnosed than men.
Because research shows ATTR-CM is more common in men, doctors may falsely assume that women don’t have it. In addition, some women have smaller hearts that can make the results of imaging tests harder to interpret. Because ATTR-CM is a systemic disease, symptoms can also show up in the nervous system or joints over time. The longer a diagnosis is delayed, the more symptoms can accrue and the harder it can be to pinpoint the original cause.
ATTR-CM symptoms tend to mimic other types of heart failure. They can also be mistaken for menopause or stress.
MyAmyloidosisTeam members have noticed the overlap between amyloidosis and menopause symptoms. “I break out in these horrible sweats every day at least once or twice. It feels like menopause! I’m sure the women in our group can relate. It is actually another side effect of amyloidosis! Pretty much everything is a side effect now. Does anyone have this?” one member asked.
Another member responded, “I am 73! I know it’s from the amyloid, but my primary doctor and I are trying to adjust doses on some of my meds. So far, no luck. But I guess we will have to live with it. Oh well, I figure it could be worse.”
In ATTR-CM, these sweats are often a sign of autonomic neuropathy, a type of nerve damage that affects body functions like temperature regulation and blood pressure.
Understanding the risk factors, signs, and symptoms of ATTR-CM can help you know when it’s time to talk to your doctor about taking a second look at your concerns.
There are two types of ATTR-CM, hereditary and wild-type. Each has a different set of risk factors.
Hereditary ATTR-CM (or hATTR-CM) is a genetic disorder that runs in families and affects people of any gender. If you have a family history of hATTR-CM, your doctor is more likely to suspect that you may have it, too.
People who are Black or Afro-Caribbean have higher rates of the genetic changes (variants) associated with hATTR-CM. The specific genetic variant linked to hATTR-CM is V122I, which is present for between 3 percent and 4 percent of the African American population.
However, having the gene doesn’t guarantee you’ll develop the condition. In fact, most people with the variant don’t. Researchers estimate that having the variant translates to a 39 percent chance of getting cardiac amyloidosis, so talking to your doctor about your family history and screening is particularly important.
Wild-type ATTR-CM is not a genetic disease. According to WomenHeart, people of any gender can have wild type ATTR-CM, but it’s most common for men who are 60 and older. Because of this, women with the condition may be overlooked or misdiagnosed.
In 2020, researchers analyzed 69 studies on people with ATTR-CM. Their report in the journal Heart Failure Reviews included 4,669 people with the disease. In total, 83 percent of the study participants with ATTR-CM were men, and 17 percent were women. Fewer women had wild-type. They made up just 9 percent of this group. In contrast, women represented 29 percent of those with hATTR-CM.
The symptoms of ATTR-CM are like those in other types of heart failure. That’s why it can be tricky to tell the difference. Doctors are trained to look for a unique set of symptoms that could point to amyloidosis, including those related to nerve damage and orthopedic issues.
Most people with heart failure symptoms don’t have ATTR-CM. After all, any type of amyloidosis is rare. Heart failure isn’t.
Learning to recognize the symptoms of ATTR-CM can be a good first step to getting the right diagnosis. Common symptoms may include:
One member of MyAmyloidosisTeam shared their family’s experience with hATTR: “I come from a family of five siblings. I have two sisters and three brothers. I’m the eldest. Four of us are currently being treated for ATTR amyloidosis. Two of my brothers have also, in the past, been treated for carpal tunnel syndrome.”
This member encouraged their other relatives to get screened and be aware of the potential signs of ATTR, including carpal tunnel syndrome.
If your doctor says you have heart failure but conventional treatment, such as ACE inhibitors or beta-blockers, doesn’t seem to be helping, it may be worth considering the possibility of ATTR-CM. Fortunately, specific tests can help tell the difference.
Echocardiograms and electrocardiograms are tests used to measure the heart’s function. A cardiac MRI can screen for structural changes to the heart muscle. These tests help identify heart failure or other heart problems.
A key sign that heart failure is caused by cardiac amyloidosis is the presence of amyloid proteins in the heart. Amyloid proteins can be detected using noninvasive nuclear imaging tests, such as a technetium pyrophosphate scan. A biopsy can also confirm if there are amyloid proteins, but it’s not always necessary.
If you test positive for amyloid deposits, the next step is figuring out what type of amyloidosis you have. Blood and urine tests help rule out other forms of amyloidosis that may be impacting the heart.
People with hereditary ATTR-CM can take a genetic test to show if they have the DNA markers linked to the condition. However, wild-type ATTR-CM isn’t identified by genetic testing. A diagnosis of wild-type ATTR-CM relies on your healthcare provider’s clinical judgement based on your test results and risk factors.
ATTR-CM is a progressive disease. Getting treatment early can help delay more serious complications. However, studies show that women with ATTR-CM tend to be diagnosed later than men. Part of the reason is that women may not show symptoms until they’re older. Earlier in life, higher levels of estrogen help protect the heart, which is a positive effect.
Another barrier to diagnosis is the fact that fewer women overall have ATTR-CM. As a result, scientists have less data on them and they are less likely to be represented in clinical trials for ATTR-CM. If this improves, better diagnosis can follow.
Treatment can slow disease progression and improve quality of life with ATTR-CM, but only after the right diagnosis is made. You can help by spreading awareness about ATTR-CM and advocating for answers when something doesn’t seem right with your own treatment plan.
On MyAmyloidosisTeam, people share their experiences with amyloidosis, get advice, and find support from others who understand.
If you’ve been diagnosed with ATTR-CM, what signs and symptoms have you experienced? Let others know in the comments below.
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