Transthyretin cardiac amyloidosis (ATTR-CM) is a rare and incurable heart muscle disease. If you have ATTR-CM, proteins accumulate in your heart and hinder its ability to pump blood throughout your body, leading to a severe form of heart failure. Though treatments can help, this condition can also have a big effect on your quality of life.
ATTR-CM can be a life-changing diagnosis. Although its symptoms are not always strong at first, ATTR-CM is considered a progressive disease, one that generally gets worse over time, often leading to heart failure and atrial fibrillation. The hallmark symptoms include:
Shortness of breath
Bloated stomach
Confusion
Coughing or wheezing
Fatigue
Heart palpitations
ATTR-CM can also lead to other conditions, such as carpal tunnel syndrome and neuropathy.
These symptoms may affect your quality of life, says Ronald Witteles, MD, a cardiologist and professor of medicine at Stanford Medicine in California. You may see reductions in mobility, exercise capacity, and independence. Sleep problems and mental health challenges are also common in people with the condition, and it may become increasingly difficult to participate in the hobbies and activities you enjoy. You may come to rely more and more on your friends and family.Early diagnosis and treatment, however, are key to preserving your quality of life. In addition to using medications, your doctors may ask you to make changes to your diet and exercise habits. Your treatment may vary based on whether your ATTR-CM is hereditary, which means it runs in your family, or wild-type, which is more common in older adults.If heart failure is already present and ATTR-CM is untreated, life expectancy is two and a half to three and a half years. But the five-year survival rate if you are diagnosed at an earlier stage, before heart failure symptoms, is 82 percent. And the availability of new treatments may help extend life expectancy considerably.The U.S. Food and Drug Administration (FDA) has approved three medications for treating ATTR-CM:
“All three have shown tremendous efficacy in greatly slowing disease progression,” Dr. Witteles says.
Acoramidis and tafamidis, both oral medications, are TTR protein stabilizers, which keep the TTR from breaking down into deposits. Vutrisiran is an injected TTR protein silencer, which halts production of the TTR protein altogether.While silencers lower TTR production to a greater degree, stabilizers are typically prescribed first, particularly in early stages of ATTR-CM.Some other medications are not FDA-approved for ATTR-CM but are still prescribed off-label. These include inotersen (Tegsedi) and patisiran (Onpattro), which slow down the liver’s production of defective amyloid proteins. Your doctor may consider these drugs if you have hereditary ATTR with polyneuropathy, or peripheral nerve damage, alongside heart issues or if other approved treatments aren’t sufficient to treat the disease.Meanwhile, supportive medications such as diuretics (water pills) may be used to address excess fluid and other symptoms. In rare cases, you may need a liver, kidney, or heart transplant.
A few day-to-day habits can help you live a healthier life with ATTR-CM. It’s also wise to talk to your doctor before making any significant lifestyle or diet changes.
Scale back on salt. Reducing sodium can help with the fluid retention you may experience with ATTR-CM, decreasing the need for diuretics, Witteles says.
Exercise and stay active. Even if you’re dealing with shortness of breath or fatigue from ATTR-CM, daily walking and exercise can help you generally feel better. Witteles advises talking to your doctor or physical therapist about exercise goals, what’s safe to do, and whether your exercise should be supervised.
Eat a healthy diet. Maintaining a heart-healthy diet is particularly important if you’re diagnosed with ATTR-CM. That means eating many fruits and vegetables, choosing lean animal or plant-based proteins, opting for low-fat dairy options, and selecting minimally processed foods. Malnutrition also can occur with ATTR-CM, so talk to your doctor about ensuring that your dietary choices are right for your situation.
Take care of your mental health. Mental health disorders such as depression and anxiety may accompany heart disease, so speak to your doctor for support and resources. It can also be helpful to connect with other people with ATTR-CM through support groups, be it online or in person.
How often you visit your doctor will depend on the severity of the disease, how stable it is, and any associated issues, Witteles says.
“For a patient who has earlier stage disease and is quite stable, doctor visits may be annual,” he says. “For other patients who are struggling with fluid retention or arrhythmias, (visits) might be every month.”
Frequency also depends on your treatment type. For instance, the medication vutrisiran requires an injection every three months.
Questions to Ask Your Doctor
Should I get genetic testing to determine if I have hereditary ATTR-CM?
How quickly might my ATTR-CM progress?
What are my options for rehabilitation?
What dietary restrictions should I know about?
What behavioral health, psychology, or psychiatry referrals do you recommend?
ATTR-CM is a progressive disease, but it typically does not have an immediate onset.
“If somebody has urgent symptoms, it’s not because suddenly there’s a whole lot of new amyloid deposition,” Witteles says. “It’s because they have had something that has acutely worsened — for example, congestive heart failure or an arrhythmia.”
Call the doctor if your symptoms include:
Chest pain
Fainting or extreme weakness
Irregular or rapid heartbeat with shortness of breath, fainting, or chest pain
Sudden, severe shortness of breath and coughing with white or foamy pink mucus
If you’re diagnosed with ATTR-CM, your typical care team will include your primary care physician, a cardiologist, and possibly other experts such as a physical therapist or dietitian, Witteles says. If you have hereditary ATTR-CM, a genetic counselor can also be helpful — and if your nerves are affected, a neurologist can provide expertise.
Your primary care physician can be the first point of contact for heart health and to evaluate your overall health and lifestyle. A cardiologist typically conducts more specialized testing and care.
Although you should always start by seeking support from your doctor, several organizations and resources also are available for patients and ATTR-CM caregivers.
“One of the best sources of support is other patients who are walking their same path,” says Paula Schmitt, the Georgia-based executive director of Amyloidosis Support Groups, an organization that provides resources to people with amyloidosis. “Having that community support helps relieve the fears and anxiety that can come with this diagnosis.”
Organizations that support ATTR-CM patients include:
Amyloidosis Support Groups Offers in-person support group meetings in more than 30 cities, along with Zoom webinars and other resources.
Amyloidosis Foundation Hosts regular webinars on topics such as clinical trials and coping with ATTR-CM challenges, plus provides resources for veterans.
Amyloidosis Research Consortium Supports the development of new treatments, educates physicians on diagnoses, and empowers patients with support and education.
ATTR-CM is a progressive heart disease with no cure. It can have a significant impact on your independence and quality of life, but early diagnosis and treatment can help maximize your ability to maintain your health.
Treatment for ATTR-CM may include oral and injected medications, as well as other medications that can address symptoms such as fluid retention.
Lifestyle changes such as eating a healthy low-sodium diet, exercising, and taking care of your mental health can help you maintain your health with ATTR-CM.
Healthcare professionals and patient support groups can provide valuable resources and community connection, which may ease some of the emotional challenges of living with ATTR-CM.
