Living With Transthyretin Amyloid Cardiomyopathy (ATTR-cm): What It's Like and What You Can Do

Living With Transthyretin Amyloid Cardiomyopathy (ATTR-cm)

"Number one would be to see your doctor regularly," Dr. Aeshita Dwivedi, a cardiologist at Lenox Hill Hospital says, "It is important to seek medical care for this condition, because we have good options and can change lives." 

Dr. Dwivedi continues, "Second would be to talk to your doctor if any of your symptoms change. You would rather know sooner rather than later, before things get worse and when you may need hospitalization."

However, there are effective ways to help you cope with the disease, this can include many things like a specialized doctor who stays updated on the latest scientific breakthroughs and is actively engaged in your treatment plan and seeking support from loved ones or other ATTR-cm patients.

ATTR-cm patients usually experience the following symptoms that significantly impact the quality of their lives:

• Shortness of breath (with minimal activity)
• Coughing and wheezing
• Dizziness and disorientation
• Confusion
• Fatigue
• Arrhythmia (i.e. Irregular heart rates)
• Fatigue and tiredness
• Edema (swelling) in the legs and feet
• Liver and spleen enlargement
• Bloated stomach

These symptoms may differ from patient to patient, with some experiencing severe symptoms while others experiencing no symptoms at all. Which category a patient falls in mainly depends on the following criteria:

• Type of ATTR-cm (hereditary or wild-type)
• Overall health and age of the patient
• Other underlying medical conditions
• When the treatment began
• Type of treatment
• Patient treatment response
• The stage of the disease
• Organs that were affected

These criteria may additionally affect the life expectancy and survival rates of ATTR-cm patients..

How Long Can You Live with Transthyretin Amyloid Cardiomyopathy (ATTR-cm)?

Although the previously mentioned parameters significantly affect survival rates among ATTR-cm patients, the average life expectancy of patients living with Transthyretin amyloid cardiomyopathy (ATTR-cm) ranges between 2-6 years from the moment of diagnosis.

Early diagnosis and treatment play a pivotal role in slowing disease progression and improving survival rates among patients and vice versa, if left untreated, disease complications may occur which in turn reduces a patient’s life expectancy.

Dr. Philip Weintraub, a cardiologist at NYU Langone Health, says that the problem with the amyloid fiber is that it is undissolvable, and "in the worst case scenario" you could need a heart transplant. 

Risk Factors for Transthyretin Amyloid Cardiomyopathy (ATTR-cm)?

Risk factors for Transthyretin Amyloid Cardiomyopathy (ATTR-cm) are categorized according to the type of ATTR-cm as follows:

Hereditary Transthyretin Amyloid Cardiomyopathy (hATTR-cm). Those who have any of the following characteristics are more susceptible to developing hereditary ATTR-cm: 

• Family history of ATTR-cm or heart failure
• TTR gene mutation (mutation in the gene responsible for producing transthyretin protein leading to its deposition in the heart as well as other organs)
• Sex Males are more prone to developing hATTR-cm than females
• Race African Americans 
• Age > 50 years old (although it's possible to have symptoms anywhere between the ages of 20-80 years old)

Wild-type Transthyretin Amyloid Cardiomyopathy (wATTR-cm). Those who have any of the following characteristics are more susceptible to developing wild-type ATTR-cm:

• Age > 65 years old
• Sex Males are more prone to developing wATTR-cm than females

Can You Prevent Transthyretin Amyloid Cardiomyopathy (ATTR-cm)?

This is only true in the case of hereditary transthyretin amyloid cardiomyopathy (hATTR-cm) where if you have a family history of hATTR-cm and know that you may carry a TTR gene mutation (mutation in the gene responsible for producing transthyretin protein leading to its deposition in the heart as well as other organs) you can consult a genetic counselor on your options to prevent this condition from occurring by reducing the risk of passing on the faulty gene to your offspring. 

What is the Latest Treatment for Transthyretin Amyloid Cardiomyopathy (ATTR-cm)?

Despite having no cure, several treatment options may help with managing transthyretin amyloid cardiomyopathy and improve the patient outlook on the disease, these include the following:

• Medications that stop disease progression by preventing further protein build-up
• Medications to relieve symptoms caused by other comorbidities like heart failure, or arrhythmias
• Drugs that specifically target the TTR gene to stop proteins from misfolding (ex. tafamidis or vyndamax)
• Medications to slow the production of amyloid protein by the liver (ex. Inotersen or Tegsedi)
• Organ transplantation (Liver, kidney, or heart transplant) this happens in rare instances in advanced stages of the disease
• Other treatment options include supportive practices like surgery or dietary changes

Another option for transthyretin amyloid cardiomyopathy (ATTR-cm) patients is to enroll in a clinical trial for a potential new treatment. But make sure to consult your doctor first so that they can guide you toward the best option for you. Recent clinical trials are looking into drugs that help in removing accumulated amyloid fibrils from the body.

Dr. Weintraub recommends seeking help through communication, "you create support group systems out there in which there are people who are willing, who care about you to extract from you what your fears are. So therefore when they get expressed it, they could be dealt with directly."

Seeking Support 

Aside from the above treatment options, it's a well-known fact that getting support is pivotal to improving your physical and emotional health. A study published in 2021 in the Orphanet Journal of Rare Diseases, reiterate the importance of listening to patients and their families describe their journey with the disease and how doctors may gain important insight and knowledge as a result. 

The authors add "The stories of the patients and family members living with the illness are an essential resource for understanding how best to respond to the illness and serve to help drug development sponsors remain focused on those aspects of the disease that are meaningful and important to those directly and indirectly impacted by ATTR. Utilizing focus group reporting of lived patient and family experiences may also lead to better PROs and survey instruments that capture and represent the patient journey, as well as inform and educate healthcare professionals and the patient community."

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 recovery. 

The Bottom Line 

Having transthyretin amyloid cardiomyopathy (ATTR-cm) is not an easy thing to live with. Luckily, there are many resources available for you to help you live with the disease and improve your long-term outlook. 

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 life expectancy. 

Questions to Ask Your Doctor

• Which type of transthyretin amyloid cardiomyopathy (ATTR-cm) do I have?
• What are my treatment options?
• Will I need organ transplantation at any point in my treatment?
• Are there any side effects to my treatment?
• How can I live with this disease?
• Do I need to change anything in my daily routine to improve my quality of life?
• How can I avoid any complications?
• Where can I contact other patients with ATTR-cm that are going through the same thing I'm going through?
• Are there any clinical trials suitable for me?

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