Symptoms of Transthyretin Amyloid Cardiomyopathy (ATTR-cm): When to Consult Your Doctor

What Is Transthyretin Amyloid Cardiomyopathy (ATTR-cm)?

Dr. Weintraub adds, "And in fact, they can cause scar tissue that can limit the pump function of the heart."

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.

A genetic test may be done for those who present with a family history of ATTR-cm or heart failure symptoms to conclusively confirm the diagnosis. 

2. Wild-type transthyretin amyloid cardiomyopathy (wATTR-cm) This type of ATTR-cm appears sporadically and is closely associated with old age. Thus, symptoms generally appear in patients older than 65 years old.

Unfortunately, patients with (wATTR-cm) may not exhibit any signs and symptoms of the disease until it's very late and the disease has already caused irreversible damage.

What Are the Symptoms of Transthyretin Amyloid Cardiomyopathy (ATTR-cm)?

Symptoms of transthyretin amyloid cardiomyopathy (ATTR-cm) include the following:

• 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

Dr. Aeshita Dwivedi, a cardiologist at Lenox Hill Hospital explains some of the neurological symptoms of ATTR-cm, "when the protein deposits in your nervous system, patients may develop a condition called neuropathy, commonly this presents with carpal tunnel syndrome or spinal stenosis." 

Dr. Dwivedi continues "A lot of patients may also find that their blood pressure becomes variable."

However, it's important to note that 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

When to Consult Your Doctor

Although the previous symptoms of transthyretin amyloid cardiomyopathy (ATTR-cm) are very serious and shouldn't be ignored, it's recommended that you seek emergent care if you start to feel symptoms of heart failure at any point, these include the following:

• Chest pains
• Severe weakness 
• Fainting
• Irregular heartbeats associated with chest pains or shortness of breath or fainting
• Severe shortness of breath that occurs suddenly
• Coughing foamy mucus with white and pink discoloration
• Memory problems and confusion
• Eye floaters
• Heart palpitations
• Unexplained swelling and weight gain

Patients may experience symptoms of heart failure at the late stages of the disease when the heart can no longer function properly and is unable to pump blood in the body leading to several organ damages.

It's best to consult your doctor if you feel any of the previously mentioned symptoms so that they may prescribe you suitable medications to manage them and help alleviate your pain.

Triggers

There are no known triggers for this disease, but there are some risk factors that make some people more susceptible than others to developing this disease, these risk factors include the following:

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 
• Older 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

Outlook and Quality of Life

Since there's no cure, the outlook and quality of life for transthyretin amyloid cardiomyopathy (ATTR-cm) significantly depend on the time of diagnosis and the extent of damage done. 

Those with hereditary transthyretin amyloid cardiomyopathy (hATTR-cm) have a better outlook than wild-type transthyretin amyloid cardiomyopathy (wATTR), this is due to the following reasons:

• Patients with wild-type ATTR-cm usually show no symptoms until it's too late and there's irreversible damage
• Patients with hereditary ATTR-cm have a slower progression rate of the disease, they show symptoms, and they'll probably find a family history of ATTR-cm, so they have better chances of getting diagnosed

Lately, there have been increasing efforts in raising awareness about the disease and finding newer treatment options with better efficacy and safety profiles.

A study published in the Journal of Heart Failure Reviews in 2021, confirms these previous claims as the authors put it "Awareness and recognition of the constellation of symptoms, including cardiac, neurologic, and musculoskeletal manifestations, will help with early diagnosis of ATTR amyloidosis and faster access to therapies, thereby slowing the progression of this debilitating disease."

Similarly, another study published on behalf of the American Heart Association in 2020, concludes that treatment is only as good as the time of the diagnosis so the earlier the diagnosis, the better the outcomes. The authors of this study say "Because therapy for ATTR-CM may be most effective when administered before significant cardiac dysfunction, early identification of affected individuals with readily available noninvasive tests is essential."

The Bottom Line

There's no doubt that the symptoms of transthyretin amyloid cardiomyopathy (ATTR-cm) may lower your quality of life and affect it extensively, but with the right medication, you can manage and control these symptoms and improve your outlook.

The earlier you get tested and have a conclusive diagnosis, the earlier you can start treatment and have a better recovery, and vice versa, if left untreated, the disease may progress to late stages where damage is irreversible.

That being said, researchers are unceasingly studying and learning more about this disease through several studies and clinical trials. So, it's crucial to educate yourself more about the disease and follow up regularly with your doctor for any treatment updates.

Questions to Ask Your Doctor

• Which type of transthyretin amyloid cardiomyopathy (ATTR-cm) do I have?
• What are the symptoms associated with this disease?
• Should I be monitored for heart failure?
• How can ATTR-cm be treated?
• 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?
• What are the side effects associated with each treatment?
• 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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