Transthyretin Amyloid Cardiomyopathy (ATTR-cm): Treatment Options and Where to Get Help

In this article, we're going to present to you the treatment options available for transthyretin amyloid cardiomyopathy (ATTR-cm), and where you can get help to improve your outlook.

Transthyretin Amyloid Cardiomyopathy (ATTR-cm) What is it, Types, and Symptoms

Transthyretin amyloid cardiomyopathy (ATTR-cm) is an extremely rare, progressive, and life-threatening disease that affects the heart. It happens due to the accumulation of an abnormal transthyretin protein (TTR protein). Under normal conditions, this protein transports vitamin A and thyroxin hormone (from the thyroid gland) to the liver. But ATTR-cm patients, "Sometimes what happens is that this protein becomes unstable or misshaped in your body," explains Dr. Aeshita Dwivedi, a cardiologist at Lenox Hill Hospital/Northwell Health. "And when this happens, it can deposit in multiple organs of your body, like your heart, leading to the condition known as transthyretin cardiomyopathy."

There are two types of transthyretin amyloid cardiomyopathy, these are:

1. Hereditary transthyretin amyloid cardiomyopathy (hATTR-cm) This type of ATTR-cm generally runs in families, where they carry a mutated variant of the TTR gene which produces the abnormal transthyretin protein leading to its deposition. Symptoms for patients with hATTR-cm may appear anytime between 20-80 years old.
2. Wild-type transthyretin amyloid cardiomyopathy (wATTR-cm) This type of ATTR-cm appears spontaneously and is closely associated with old age. Thus, symptoms generally appear in patients older than 65 years old.

You should be clear with your doctor about all the signs and symptoms you're experiencing to help them make an early diagnosis.

Below is a list of the most common symptoms of transthyretin amyloid cardiomyopathy (ATTR-cm):

• Shortness of breath (especially during inactivity or lying down)
• Irregular heartbeats (arrhythmias especially atrial fibrillation)
• Edema (swelling in the legs due to fluid retention)
• Tiredness and extreme fatigue
• Dizziness
• Fainting
• Bloated stomach
• Coughing and wheezing
• Confusion
• Disorientation

Nevertheless, not every patient will experience the same symptoms. Some may experience these symptoms in severe forms while others may have milder symptoms or no symptoms at all, this all depends on the following criteria:

• Type of ATTR-cm (hereditary or wild-type)
• Age of the patient
• The overall health of the patient
• Other underlying medical conditions

 

What Are the Treatment Options Available for Transthyretin Amyloid Cardiomyopathy (ATTR-cm)?

"Treatment invariably depends on the symptoms," Dr. Philip Weintraub, a cardiologist at NYU Langone Health, tells SurvivorNet.

Treatment options available for transthyretin amyloid cardiomyopathy (ATTR-cm) include the following:1

1. Medications that target the TTR gene and stop it from abnormally folding transthyretin protein

These drugs have a significant impact on slowing the progress of the disease and preventing irreversible damage. Thus, it's pivotal for ATTR-cm to take these at the early stages of the disease to avoid severe complications like heart failure.

These drugs are in capsule form and include Tafamidis  (brand name Vyndamax) and Vyndaquel.

"What Vyndamax does is stabilize this abnormal, misfolded protein so that more of it doesn't get deposited in your heart," Dr. Dwivedi explains to SurvivorNet. On the other hand, they may be very expensive for patients who have no health insurance coverage.

2. Medications to slow the production of amyloid protein from the liver

Like tafamidis, these drugs are unable to reverse the disease, but they may slow its progression and reduce the damage that will be done as a result.  These drugs include Inotersen or Tegsedi.

3. Medications that help with relieving symptoms caused by ATTR-cm

These drugs help with alleviating the symptoms caused by the disease, but they do not affect treating the primary condition. These include the following:

• Antiarrhythmics these help in regulating heartbeats
• Anticoagulants these help with preventing coagulation and blood clotting
• Diuretics these help in reducing built-up fluid and swelling
• Pacemakers these are not medications, but they are small devices that are installed in the heart to help in monitoring and regulate heartbeats

4. Organ transplantation procedures

These are usually done in the very late stages of the disease when the deposited amyloid proteins have accumulated extensively causing irreversible damage to organs and leading to organ failure.

In this procedure, the damaged organ is replaced by another, depending on the affected organ it can be the heart, the liver, or the kidneys.

However, Dr. Weintrub says "it becomes more difficult to enroll someone in a heart transplant that has multi-organ diseases because the heart transplant surgeon has to then be certain that if a transplant the heart, that I’m not gonna run into difficulties with the other organ systems"

A review study published in the Journal of Clinical Medicine in 2022, concluded that among all the treatment options available for ATTR-cm, Tafamidis (brand name)Vyndamax is considered the current standard of care. The authors add "Patients with contraindications to tafamidis or who have no insurance coverage may benefit from green tea or the off-label use of diflunisal or tolcapone."

Nevertheless, you shouldn't take any medications or dietary supplements before consulting your healthcare provider first so that they can recommend the best treatment option suitable for you.

Getting Help With ATTR-cm

Living with transthyretin amyloid cardiomyopathy can be very challenging as it takes a toll on both your physical and mental health. So, we here at SurvivorNet recommend these resources to help you through this journey and learn more about your condition.

Moreover, your mental health plays an important role in your recovery, so, you can seek the support and help you need from family members, and loved ones, or join a support group for ATTR-cm.

Similarly, the American Heart Association offers a support network to connect with other ATTR-cm patients, benefit from their experience, and help others as well. Additionally, you can check on these patients and learn about their journey as well.

Talk with your doctor about the best treatment options available and share any concerns you might have. Whether this is hereditary or wild-type ATTR-cm, seeking support is one of the best ways to improve your treatment outcome.

The Bottom Line

While living with transthyretin amyloid cardiomyopathy can be incredibly challenging especially since there isn't a cure for it yet we take solace in the fact that there are a lot of treatment options available to manage the disease and help in alleviating the symptoms.

On the positive side, ATTR-cm has gained a lot of recognition in these past few years by healthcare providers, and they started noticing red flags with patients which have significantly reduced the percentage of cases that previously went misdiagnosed.

Moreover, there have been several research efforts put into more clinical studies to discover new treatments able to effectively cure ATTR-cm and improve the quality of life for its patients.

Questions to Ask Your Doctor

• Which type of transthyretin amyloid cardiomyopathy (ATTR-cm) do I have?
• What are the symptoms associated with this disease?
• What are the treatment options available for ATTR-cm?
• What are the side effects associated with each treatment?
• What are the disease complications and how can I avoid them?
• Will I need organ transplantation at any point during my disease?
• How can I improve my life expectancy?
• Are there any clinical trials suitable for me?
• Where can I contact other patients with ATTR-cm that are going through the same thing I'm going through?

 

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