Questions to Ask the Doctor About Transthyretin Amyloid Cardiomyopathy

If you’ve been diagnosed with transthyretin amyloid cardiomyopathy (ATTR-CM), you probably have a lot of questions.

For example, you may want to know the causes of the heart condition and what symptoms and potential complications to expect. You’re also likely interested in available treatment options and overall prognosis.

Unfortunately, ATTR-CM is a complex condition that is often diagnosed late, if at all, because even some physicians don’t fully recognize the signs, according to the American Heart Association (AHA). A review published in the World Heart Federation’s Global Heart found that ATTR-CM has a 40 to 50 percent misdiagnosis rate and that most people with the condition experience a significant delay — about six years — in being diagnosed. This can lead to problems such as worsening of the disease, repeated hospitalizations due to heart failure, and receiving incorrect treatment.

That’s why it’s best to consult a cardiologist with expertise in the condition once you’ve received your ATTR-CM diagnosis, says Frederick L. Ruberg, MD, chief of cardiovascular medicine at Boston Medical Center and section chief of cardiovascular medicine at Boston University Chobanian & Avedisian School of Medicine.

Briefly, transthyretin (TTR) is a “transporter protein” manufactured primarily by the liver. Found in cells that circulate in your blood, TTR carries vitamin A and a thyroid hormone called thyroxine throughout the body, according to the National Library of Medicine.

In ATTR-CM, the protein can become misshapen, and clumps of malformed proteins, called amyloids, can form and build up in the heart, nerves, and other organs.

When this happens in your heart, it can cause the tissues to become thick and stiff, which can lead to the heart being unable to function properly. This can often lead to heart failure, according to the AHA.

“Not all physicians have a full understanding of what transthyretin amyloid cardiomyopathy is,” says Dr. Ruberg. But learning more about ATTR-CM can help you better communicate with your doctors and manage your symptoms, he adds. Here are some questions to ask your doctor:

1. What Type of Transthyretin Amyloid Cardiomyopathy Do I Have?

There are two types of ATTR-CM: hereditary and wild.

Hereditary ATTR-CM runs in families and is caused by an inherited mutation in the TTR gene, which causes amyloid deposits to build up in your heart, nerves, and, in some cases, kidneys and other organs. If you have hereditary ATTR-CM, symptoms may start as early as your 20s or as late as age 80, according to the AHA.

In wild-type ATTR-CM, the TTR protein is normal (not mutated), so it’s unclear why the protein breaks apart and becomes misshapen, according to Stanford Medicine. Doctors do know, though, that the problem usually begins to surface with aging. People with wild-type ATTR-CM typically don’t experience symptoms until age 65 or older, according to the AHA.

2. What Are My Treatment Options?

Previously, the only treatment for ATTR-CM was an organ transplant of the heart, the liver, or both. Now, both hereditary and wild-type ATTR-CM are most commonly treated with medications designed to slow or stop the buildup of amyloid deposits.

Medications called ATTR silencers are designed to control transthyretin production or prevent abnormal transthyretins from accumulating in your heart.

ATTR stabilizers do exactly that: bind to and stabilize the TTR protein, resulting in fewer amyloid deposits. And a review reported that combining ATTR stabilizers with peptides that stop amyloids from growing is currently under research to help people in advanced stages of the disease.

All of these strategies can help slow or even reverse the damage caused by amyloid deposits.

3. What Can I Expect From Treatment?

None of these options promises a cure. But they may prevent progression of the disease and, in some cases, improve your symptoms, says Noel R. Dasgupta, MD, a cardiologist, associate professor of clinical medicine at Indiana University School of Medicine, and member of the Indiana University Amyloidosis Center.

4. Will I Need a Heart or Liver Transplant?

If ATTR-CM has progressed to advanced heart failure, heart transplantation may be considered. This is usually only an option for people with hereditary ATTR-CM, who tend to be younger, because the wild type tends to strike when a person is older and a heart transplant isn’t feasible, Ruberg says.

In the past, according to Dr. Dasgupta, some people have undergone heart and liver transplants simultaneously to address ATTR-CM, although this is increasingly rare. Liver transplantation is done in hereditary amyloidosis to stop the production of abnormal transthyretin.

5. What Steps Can I Take to Manage My Symptoms?

The best way to manage symptoms is to stick to your doctor-prescribed treatment, Ruberg says.

“For patients with ATTR-CM who have congestive heart failure, the main treatment focuses on control of heart failure, which typically requires medications designed to manage fluid overload in the heart and control heart arrhythmias,” says Dasgupta.

6. Why Am I Short of Breath, and Is There Anything I Can Do About It?

ATTR-CM can cause your heart to become stiff and weak, making it difficult to pump blood throughout your body. Blood and fluids can build up in your lungs, which can lead to shortness of breath, among other symptoms. Treatment of heart failure and fluid accumulation in the heart can reduce shortness of breath. Diuretic medications may help decrease fluid in the lungs and improve breathing. Treatment of abnormal heart rhythms and blockages in the heart arteries can also improve shortness of breath in some patients.

7. When Should I Seek Emergency Medical Help?

“Passing out, or syncope, could be a sign of a serious heart arrhythmia,” says Dasgupta. “If you have severe shortness of breath, chest pain, or palpitations, these could be signs of a serious medical problem that requires emergency care.”

8. Can Diet or Lifestyle Changes Improve ATTR-CM?

Although diet and lifestyle changes won’t cure your ATTR-CM, Ruberg emphasizes, they can help you manage the symptoms and reduce your risk of advanced congestive heart failure.

The AHA recommends that you quit smoking, if you haven’t already, and eat a diet of nutrient-rich foods, including fish, fruits, legumes, low-fat dairy, nuts, poultry, vegetables, and whole grains. You should also limit sweets, sugar-sweetened beverages, and red meat, and work with your doctor to maintain a healthy weight.

In addition, the Global Heart review notes that some studies have shown that consuming high quantities of green tea may help prevent amyloid protein deposits from forming. And some have found that green tea extract may help reduce thickness in parts of the heart in people with ATTR-CM. (Before considering green tea, making any other dietary changes, or adding supplements, always consult your doctor to make sure it’s right for you.)

As for staying physically active, you should try to get some exercise, under the guidance of your healthcare professionals. Although it’s likely that your ATTR-CM symptoms may affect your ability to exercise, it’s important to try to stay physically fit. Even walking can help, Ruberg says.

9. Who Should Be on My ATTR-CM Care Team?

Cleveland Clinic recommends that your care team for ATTR-CM include a cardiologist as well as a genetic counselor to consult with you and your family about hereditary risks for certain conditions.

“I think it’s helpful to visit with a cardiologist at a center that specializes in ATTR-CM,” Ruberg says. “They will have the best understanding of the condition and can get you into a clinical trial for the newest treatments, if you’re eligible.”

10. What Tests Will I Need and How Often?

Your cardiologist should order a baseline electrocardiogram (ECG) and echocardiogram to monitor your heart function. They may then perform periodic ECGs or cardiac MRIs, if needed, to monitor your heart’s electrical system, function, and structure.

A nuclear medicine scan may also be needed to see if your treatment is controlling or reducing the amyloid buildup in your heart.

The frequency of testing depends on your clinical symptoms but is typically at least once a year for ECGs. In general, follow-up testing may occur every six to 12 months, according to a review.

11. What Are the Potential Complications of ATTR-CM? Are There Any Symptoms That Signal an Emergency?

According to Ruberg, complications associated with transthyretin amyloid cardiomyopathy include, most notably, progression to congestive heart failure and the development of related conditions, such as heart rhythm problems, peripheral neuropathy, and constipation or diarrhea.

People with ATTR-CM are not at increased risk for a heart attack, he notes, but are at risk for serious heart rhythm problems that would require immediate attention.

Many of the symptoms of congestive heart failure mirror those of ATTR-CM, so if you experience any of them while on treatment, call your doctor.

12. Should I Be Monitored for Atrial Fibrillation?

Atrial fibrillation, or afib, is a common complication of ATTR-CM, according to Ruberg. If you have a history of afib, talk to your doctor about the best ways to monitor your heart function. Most patients with afib and ATTR-CM will need blood-thinning medication to reduce the risk of stroke.

13. Should I Be Undergoing Treatment for Congestive Heart Failure?

Unfortunately, many of the drugs used to treat congestive heart failure, such as ACE inhibitors and beta-blockers, aren’t well tolerated by people with ATTR-CM and cause side effects and complications, Ruberg explains.

If you are being treated for congestive heart failure and have been diagnosed with ATTR-CM, talk to your doctor about the medications you take and see if you need to make any changes.

14. Does Having ATTR-CM Mean I May Get Amyloid Light-Chain Amyloidosis?

Amyloid light-chain (AL) amyloidosis is a bone marrow disorder that, like ATTR-CM, is caused by misshapen proteins. Although the two conditions are similar, the proteins are very different, and having one doesn’t put you at higher risk of getting the other, Ruberg notes.

But, he adds, if you have AL amyloidosis and it moves to your heart, it can carry a far worse prognosis than standard ATTR-CM.

“I definitely urge my patients to educate themselves about all forms of amyloidosis,” he says. “While I also caution them that there’s a lot we still don’t know about these conditions, they should stay as up to date and on top of their health as possible.”