According to research, transthyretin amyloid cardiomyopathy (ATTR-CM) contributes to approximately 20% of heart failure cases where thickening of the heart wall is present. A diagnosis of this condition can be devastating, depending on when the condition is noticed.
So, what is this condition exactly, what causes it and what are the ATTR-CM symptoms you should watch out for? In this article, we answer all of these questions and more.
What is ATTR-CM?
ATTR-CM is when irregular proteins build up on the heart’s wall. This can lead to stiffening of the left ventricle, causing difficulty with pumping blood to the rest of your body.
Typically, this condition happens due to hereditary factors. A mutation of the TTR gene leads to a protein called transthyretin becoming deformed. In turn, it builds up in the heart and other organs. In the worst-case scenario, this condition can lead to heart failure.
Surprising though, not all cases of ATTR-CM are hereditary. The second type of this condition results from a lack of variation in the transthyretin gene, resulting in the above circumstances.
5 Common Signs and Symptoms
Most people who are diagnosed with ATTR-CM are over 50. Some people may also not have any symptoms until it becomes life-threatening. Common symptoms may include:
1. Shortness of Breath
This may be more prominent when you are doing physical activity, such as walking, running, or going upstairs. Yet, individuals with ATTR-CM also tend to have shortness of breath when lying down or when doing leisure activities.
2. Autonomic Neuropathy
This means that ATTR-CM symptoms are impacting your nervous system, more specifically when it comes to involuntary functions. It may impact blood pressure, heart rate, sweating and more. In turn, this actually results in shortness of breath (as mentioned above), lightheadedness, dizziness (often due to the heart’s electrical system malfunctioning) and edema (swelling, which typically occurs in the feet, legs and abdomen).
In fact, this swelling may present as bloating, which can cause some confusion as to why it is happening.
3. Exercise Intolerance
Your usual physical activity leaves you feeling tired and weak. This may happen gradually and is simply due to your body not receiving enough oxygen since your heart is not pumping your blood effectively.
4. Peripheral Neuropathy
This is an early sign, which can help individuals detect ATTR-CM before it becomes life-threatening. This happens when the protein accumulates on the nerves, which frequently leads to numbness and tingling in the extremities.
However, if you have diabetes, your doctors might not pay much attention to this symptom, since it is common alongside a diabetic diagnosis.
5. Tearing of the Bicep Tendon
Surprisingly, one out of three individuals with non-genetic ATTR-CM will experience a bicep tendon rupture. While experts aren’t entirely sure why this happens, if this kind of injury occurs out of nowhere, it may be worthwhile to get tested for ATTR-CM (just in case).
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Treatment Options for ATTR-CM
Unfortunately, there is no cure for ATTR-CM, and once the process of accumulation of these proteins has begun, there is no reversing it. However, specific medications can slow the buildup and even stop the protein deposits. There are also various treatments available to help alleviate the symptoms described above.
Some common medications used for ATTR-CM include:
- NSAIDs (non-steroidal anti-inflammatory drugs).
These medications stop the proteins from deforming, which can help stabilize ATTR-CM and prevent its progression.
Other medications, such as inotersen and patisiran, may also be prescribed since they help slow the liver’s production of these proteins.
In rare instances, kidney or liver transplants may be performed. Some may also undergo a heart transplant or receive a left ventricle assist device.
Prevention is tricky due to the genetic component. However, if anyone in your family has ATTR-CM, it is worth getting tested and monitoring. There’s only about a 50% risk of passing on this condition to your children. In some instances, it may also not develop into ATTR-CM. Yet, if caught early, irreversible damage to the heart can be prevented.
If you have noticed any of the above symptoms or have confusion or difficulty performing your usual tasks, book a visit with your doctor. They can refer you for further testing to determine an appropriate diagnosis. From there, you can work together to find ways to resolve and prevent your symptoms.
At the end of the day, it is crucial to take care of your overall health. This includes performing regular cardio to take proper care of your heart and keeping it in tip-top shape via proper and mindful dietary choices. It’s further important to attend regular doctor appointments to ensure your health is on track and any condition or disease is caught early enough for proper treatment.