Do you sometimes feel dizzy even when walking a short distance? Do you feel short of breath when you go to bed? Do your legs and ankles swell? Does your heart beat strangely or fast? Although we often think that these things are normal things that happen as we age, sometimes behind these symptoms there may be a condition that we have not heard much about and that can be serious if not properly diagnosed. One such disease is Transthyretin Amyloidosis, or ATTR-CM for short.
Simply put, what is Transthyretin Amyloidosis (ATTR-CM)?
This is a bit of a complicated name, so let's break it down word by word. Then you will understand it very easily.
- Transthyretin (TTR): This is a type of protein in our body. It is made by our liver. Its main function is to carry vitamin A and the thyroid hormone thyroxine through our blood to the necessary places in the body. It is like a delivery person carrying parcels.
- Amyloidosis: This is when a type of protein, as mentioned above , folds incorrectly, clumps together, and forms fibrils, which look like little balls of thread, and gets deposited in our organs. When deposited in this way, the normal functioning of those organs is disrupted.
- Cardiomyopathy (CM): This refers to a disease of the heart muscle .
Now, to put all of this together, Transthyretin Amyloidosis (ATTR-CM) is a disease in which the protein TTR, which is made by our liver, misfolds and clumps together, especially in our heart muscle, causing the heart muscle to thicken and become stiff, making it unable to pump blood properly.
Imagine that the main blood-pumping part of your heart (the left ventricle) is like a flexible rubber ball. It easily contracts and expands to pump blood throughout the body. Now, when those protein clumps are deposited in that heart muscle, that rubber-like part gradually becomes rough and dense. It becomes like a coconut shell ball instead of a rubber ball. Then it can't contract and expand easily, right? That's what happens to the heart in this disease. This is why conditions like heart failure occur.
There are two main types of this disease.
ATTR-CM disease can be divided into two main types.
1. Familial or Hereditary ATTR-CM:
This is caused by a mutation in our genes. This means that we may have inherited the gene for this disease from our mother, father, or someone in our family. In this type, protein clumps can be deposited not only in the heart, but also in places like the nervous system and kidneys.
2. Wild-type ATTR-CM:
The exact cause of this type has not yet been found. It is not hereditary. This type is most often seen in men over the age of 65. It mainly affects the heart and nervous system.
What are the symptoms? How do we recognize this?
The symptoms of this disease can vary from person to person. Sometimes, people with the 'wild-type' type may not show any symptoms at all in the early stages. Even if symptoms do appear, they are very similar to those of a common heart failure condition, so it can sometimes be difficult to diagnose this disease.
These are the commonly seen symptoms.
| Symptom | A simple explanation |
|---|---|
| Shortness of breath | Difficulty breathing, especially when doing light work, walking, or lying down in bed. |
| Swelling of the legs, ankles, feet (Edema) | Legs swell due to excessive fluid retention in the body. It can feel tight when you put on shoes. |
| Heartbeat irregularities (Arrhythmia) | Feelings of rapid heartbeat, chest pain (palpitations), or irregular heartbeat, especially a condition called Atrial Fibrillation (Afib), are common. |
| Fatigue | Constantly feeling extremely tired for no reason. |
| Dizziness or passing out | Feeling dizzy or fainting when standing or getting up suddenly. |
| Bloated stomach | Feeling bloated due to fluid accumulation in the stomach. |
Other complications that may occur due to this disease
This protein is not only deposited in the heart. It can also cause other problems by depositing in the nervous system and other tissues.
- Carpal Tunnel Syndrome: This is a condition where a nerve that runs through the wrist is compressed. People with this condition can experience this condition in both hands . Symptoms include numbness and pain in the fingers.
- Peripheral Neuropathy: This causes damage to the nerves in the limbs. As a result, you may experience numbness, tingling, and pain in the limbs.
- Spinal Stenosis: A narrowing of the spinal canal. This can cause back pain and leg pain.
- Tendon Ruptures: A spontaneous rupture of a tendon in the arm or leg.
Importantly, if you are being treated for high blood pressure and have carpal tunnel syndrome in both hands, your doctor may suspect ATTR-CM. Therefore, it is important to tell your doctor about your full symptoms.
How does the doctor diagnose this disease exactly?
Because the symptoms of this disease are similar to common heart diseases, several special tests are required to accurately diagnose it.
- Electrocardiogram (ECG): A test of the electrical activity of the heart.
- Echocardiogram: This is a scan of the heart. It can closely monitor things like the thickness and function of the heart muscle.
- Cardiac MRI: This is another in-depth scan of the heart.
- Bone Scintigraphy (Bone Scan): This is a very special test. This scan, which is usually done to examine bones, can detect whether amyloid protein is deposited in the heart.
- Blood tests: A genetic test can be done to see if there are any changes in the TTR gene.
- Heart Biopsy: Sometimes, a very small piece of heart muscle needs to be taken and examined to confirm the disease.
Is there any treatment? Can this be completely cured?
Currently, there is no cure for ATTR-CM, and there is no way to remove the protein clumps that have already formed in the heart.
But don't worry. There are now very effective medications that can control this disease, that is, stop or slow down the formation and deposition of new protein clumps. These medications can prevent the disease from getting worse.
- TTR Stabilizers: Drugs like Tafamidis (Vyndaqel®, Vyndamax®) bind to the TTR protein and prevent it from folding incorrectly.
- TTR Silencers: Drugs like Patisiran (Onpattro®) and Inotersen (Tegsedi®) reduce the production of this faulty protein by the liver.
In addition to these medications, you may also be given treatments to control your symptoms. For example:
- Medicines to control heart disease.
- Medications for heart rhythm disorders.
- Medicines for fluid retention.
Very rarely, in very severe cases of the disease, it may be necessary to resort to something like a liver transplant, kidney transplant, or heart transplant.
The most important thing when living with this disease is to maintain a regular relationship with your cardiologist and take your prescribed medications on time. With ongoing research into new drugs and treatments, there is hope for the future.
Take-Home Message
- ATTR-CM is a disease in which a type of protein is deposited in the heart, causing the heart muscle to thicken, stiffen, and weaken its function.
- Shortness of breath, swelling of the legs, irregular heartbeat, and extreme fatigue are the main symptoms. Don't ignore these as normal signs of aging.
- This disease can be inherited (familial), or it can occur without any cause (wild-type).
- If you have Carpal Tunnel Syndrome in both hands and heart symptoms, be especially careful.
- Although this disease cannot be completely cured, there are now very effective medications that can stop the disease from progressing further.
- If you have these symptoms, it is very important to see your doctor as soon as possible and get the necessary tests done.
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