Understanding Transthyretin Amyloid Cardiomyopathy (ATTR-cm)
- ATTR-cm is a rare, often misdiagnosed, or underdiagnosed condition affecting the heart. ATTR-cm often presents with the same symptoms as common heart diseases, such as congestive heart failure.
- ATTR-cm is characterized by a build-up of amyloid fibrils, hindering the normal processes of the heart.
- There is no cure for ATTR-cm; however, there are medications and support structures to help improve the quality of life and prolong your survival rate.
In this article, we're going to understand more about transthyretin amyloid cardiomyopathy (ATTR-cm), and the associated complications, and discuss how it affects the lives of its patients.
Read MoreFrom its name, transthyretin amyloid cardiomyopathy is categorized into the following:
- Transthyretin. Normally, this protein functions in transporting vitamin A (retinol) and thyroxine hormone (from the thyroid gland) to the liver. When mutated, it folds on itself and forms clumps known as amyloid fibrils that deposit on organs making them stiffer and thicker.
- Amyloid. Refers to the protein fibrils that are misfolded and start building on several organs, in the case of ATTR-cm, these clumps accumulate on the walls of the heart rendering them stiffer and unable to perform their normal function. As time goes by, these protein deposits increase which in turn leads to more damage.
- Cardiomyopathy. A term that means heart muscle disease prevents it from performing its normal function.
In ATTR-cm, amyloid fibrils are built up in your heart which means that it hinders this process (relaxing and contracting) by blocking the heart, backing blood in the lungs, or disrupting the normal coordination of blood flow in the body which in turn leads to serious and even deadly complications like heart failure if it goes unchecked for a long time.
Subsequently, ATTR-cm symptoms that closely resemble heart failure symptoms appear:
- Shortness of breath
- Chest pains
- 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. Philip Weintraub, a cardiologist at NYU Langone Health adds, "You could have lightheadedness, you could have fatigue, but a lot of that is based upon the fact that without the necessary oxygen that needs to be in your bloodstream, it'll compromise the body's ability to function properly. The heart works best when it's enriched with oxygen and nutrients, and to deprive the heart of that leads to a compromised lifestyle."
Thus, making it very easy to misdiagnose if it's not being looked for specifically. Additionally, these symptoms vary from patient to patient according to the following parameters:
- Type of the disease (wild or hereditary ATTR-cm)
- Overall health and age of the patient
- Patient's previous medical history
Unlike patients with hereditary ATTR-cm, patients with wild-type ATTR-cm generally don't experience any symptoms until the disease has progressed into the very late stages.
What's the Difference Between Hereditary ATTR-cm and Wild-Type ATTR-cm?
The difference between hereditary ATTR-cm and wild-type ATTR-cm is that hereditary transthyretin amyloid cardiomyopathy (hATTR-cm) generally runs in families, and it's caused by a mutation in the transthyretin (TTR) gene, which produces a faulty protein that misfolds and deposits amyloid fibrils on the heart, nerves, kidneys, and other organs.
This faulty gene is inherited from generation to generation which is why it's recommended for those who carry the mutated variant of the TTR gene to seek genetic counseling first before deciding to conceive.
Symptoms of hereditary transthyretin amyloid cardiomyopathy (hATTR-cm) start anywhere in time between the ages of 20-80.
Risk factors for hereditary transthyretin amyloid cardiomyopathy (hATTR-cm) include the following:
- A family history of ATTR-CM or heart failure
- Old age (more than 50 years old), even though symptoms can appear between 20-80 years old
- Sex, males have it more than females
- Race, where it's more predominantly found in African Americans
As for wild-type transthyretin amyloid cardiomyopathy (wATTR-cm), it's not inherited and doesn't run in families, but it's mostly associated with age. However, it also results from clumped proteins. It most commonly affects the normal functions of the heart and nerves, and, may cause other comorbidities like carpal tunnel syndrome (a condition that affects the hands causing pain, numbness, and tingling).
Symptoms of wild-type transthyretin amyloid cardiomyopathy (wATTR-cm) start after age 65.
Risk factors for wild-type transthyretin amyloid cardiomyopathy (wATTR-cm) include the following:
- Old age (above 65 years old)
- Males are more prone to getting wATTR-cm than females
Is Transthyretin Amyloid Cardiomyopathy (ATTR-cm) Curable?
Unfortunately, there's no known cure for transthyretin amyloid cardiomyopathy until now. But there are treatment options to slow or even stop amyloid protein depositions as well as manage the symptoms.
However, these medications will not have any effect on the previously deposited proteins that are already there. Moreover, If the disease has damaged major organs like the heart or liver, the only option is to perform an organ transplant.
Thus, early diagnosis and treatment are key and can pointedly improve the quality of life for patients with transthyretin amyloid cardiomyopathy (ATTR-cm) as well as increase their life expectancy before any significant damage has occurred.
Evidently, a study published in 2021, in the Journal of Cardiology and Therapy, sheds light on the importance of directing increased efforts toward timely diagnosis for ATTR-cm patients through raising disease awareness and introducing new noninvasive diagnostic techniques.
Living with ATTR-cm is not easy and requires a lot of support whether from loved ones or other patients who may be going through the same thing you are. 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 success stories.
The Bottom Line
Transthyretin amyloid cardiomyopathy (ATTR-cm) is a very challenging disease to diagnose as it shares many symptoms of other more common heart conditions. Left untreated, it leads to serious complications and low quality of life.
"ATTR cardiomyopathy is an evolving condition, and until a few years ago, we did not really have anything to treat the disease in and of itself," says Dr. Aeshita Dwivedi, a cardiologist at Lenox Hill Hospital in New York. "All we could do was really treat the symptoms of heart failure. More recently, we have been fortunate to have newer drugs that can impact the disease process."
Many studies reiterate the importance of early diagnosis by raising awareness and introducing better diagnostic tests for improved treatment outcomes.
People with ATTR-cm or heart failure symptoms run in families should undergo genetic testing to get a conclusive diagnosis early on and avoid other complications.
Questions to Ask Your Doctor
- Which type of transthyretin amyloid cardiomyopathy (ATTR-cm) do I have?
- What are the treatment options available for ATTR-cm?
- 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 disease outlook?
- What are the side effects associated with each treatment?
- Do I need to change anything in my daily routine to improve my quality of life?
- 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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