Let's learn about the strange proteins that are deposited in the heart? (Cardiac Amyloidosis)

Do you sometimes feel tired or have a little trouble breathing? You may not pay much attention to these things. But sometimes these can be a sign of a heart problem. Today we are going to talk about a condition that affects the heart, which you may not have heard of , but is very worth knowing about. Don't worry, we will talk about this simply and in a way that you can understand.

What is this (Cardiac Amyloidosis)?

Simply put, `(Cardiac Amyloidosis)` is a disease caused by misshapen proteins in our body, which deposit in and around the heart. Think of it like a blockage in a water pipe. This buildup of proteins reduces your heart's ability to pump blood. The heart then has to work harder. Eventually, this extra effort can weaken and damage the heart, leading to `(Heart Failure)`.

There can be many reasons for this. Some people inherit it from their parents, which means it is genetic . Others may develop the condition without any genetic link. It can also be caused by other diseases, such as cancer. Although this condition, called ``Amyloidosis``, cannot be completely cured, there are good treatments for some types.

What are the types of Cardiac Amyloidosis?

The proteins in our bodies are long chains of molecules. These proteins help us do many things, including provide energy, carry out chemical reactions in our bodies, and communicate messages between different systems. But there's a problem. Our cells can only use these protein chains if they are in the right shape. Protein misfolding disorders, such as amyloidosis, cause these proteins to become twisted, misfolded, and unable to function properly.

When proteins become too disorganized in this way, they become tangled together and the body cannot use them. When they have nowhere to go, these tangled proteins clump together, stick together, and get stuck in various parts of the body.

Amyloidosis can affect many systems in the body, especially the heart. There are three main types of amyloidosis that affect the heart (other types can also affect the heart, but they are much rarer).

AL (Light Chain) Amyloidosis

Our body uses things called ``light chains`` as part of its immune system. These protect us from germs like viruses and bacteria. ``AL Amyloidosis`` occurs when cells in our bone marrow malfunction and produce too many of these ``light chains.`` This can happen on its own, or it can be caused by certain types of blood cancers or cancers of the immune system. This type is usually diagnosed after the age of 50.

ATTR amyloidosis

Transthyretin (TTR) is a protein that helps move certain chemicals around in our bodies. It gets its name because it transports thyroid hormone and vitamin A (retinol). It was previously called Thyroxine-binding prealbumin (TBPA), but that name is no longer used.

The symptoms of `ATTR Amyloidosis` are very variable. It can appear as young as 20 years old or as late as 70 years old. There are two main subtypes:

• Hereditary ATTR: This is a genetic condition. This means you inherit it from your mother, father, or both.
• Wild-type ATTR: This occurs when the TTR protein simply starts to malfunction, without any genetic mutation. This usually occurs after the age of 60. It was previously called Senile Systemic Amyloidosis or Senile Cardiac Amyloidosis, but these names are no longer commonly used.

Dialysis-related amyloidosis

People who have been on dialysis for years due to kidney disease are at increased risk of developing amyloidosis. This is because a protein called beta-2 microglobulin (beta-2 microglobulin) is not normally filtered out during the dialysis process. This protein, known as beta-2Ms, accumulates in the heart and other parts of the body.

Rare (Cardiac Amyloidosis) types

In addition to this, there are several other subtypes of ``Cardiac Amyloidosis'', but they are very rare.

Who is more likely to develop this?

There are several main factors that affect who develops this disease:

• Age: Although some people can develop amyloidosis in their 20s, it is generally rare in people under the age of 40. The disease is most often diagnosed after the age of 50, especially in the form of wild-type ATTR amyloidosis.
• Gender: Men are more likely to develop cardiac amyloidosis than women. Especially with wild-type ATTR amyloidosis, there are 25 to 50 more men affected for every woman.
• Country of birth: A genetic mutation that causes familial ATTR amyloidosis is very common in some countries. For example, countries like Portugal, Japan, Sweden, Finland, and several other European countries.
• Race/ethnicity: Another genetic mutation that causes familial ATTR amyloidosis is found in about 4% of black people of West African descent. This includes African Americans as well as black people from Latin America and the Caribbean.
• Continuous dialysis for many years: The longer you are on dialysis, the more likely you are to develop these symptoms.

How common is this disease?

In general, `(Amyloidosis)` is a rare disease. However, some types of `(Amyloidosis)` are more common than others.

• AL Amyloidosis: In the United States alone, about 4,000 new cases of AL Amyloidosis are reported each year. That's about one in 64,500 adults.
• Hereditary `ATTR Amyloidosis`: This condition can be seen in up to 4% of black people of West African descent. In people of European descent, it is seen in about one in a hundred thousand. However, in the countries mentioned above, this number is much higher. For example, in Portugal, about one in 538 people has this condition.
• Wild-type ATTR Amyloidosis: Experts believe this is an underdiagnosed condition, with estimates suggesting that it may affect up to 20% of men over the age of 80.
• Dialysis-related amyloidosis: This occurs in about 20% of people on dialysis for two to four years. It occurs in almost everyone on dialysis for 13 years or more.

How does this disease affect the body?

Cardiac Amyloidosis is a disease that changes the structure of your heart and interferes with its ability to pump. It happens in the following ways:

• Thickening of the heart walls: When `(Amyloid)` proteins are deposited in the heart muscle, the walls of the heart thicken and the heart becomes enlarged. When this happens, the heart has to work harder to pump blood throughout the body. This extra effort eventually leads to `(Heart Failure)` .
• Cardiac amyloidosis can cause irregular heart rhythms (arrhythmias), or weakened electrical signals in the heart. Atrial fibrillation is a common type of arrhythmia associated with amyloidosis.
• Amyloid deposits: Amyloid proteins are waxy, sticky proteins that clump together easily and form large clumps. If these clumps get stuck in a heart valve, the valve can become partially blocked, restricting blood flow.

What are the symptoms?

Not everyone who has a genetic mutation that can cause amyloidosis will develop the disease. Some people never develop it. Others do, but it is not as severe.

Cardiac Amyloidosis symptoms usually involve the heart, but can also involve other vital organs such as the liver and kidneys. In the final stages of Cardiac Amyloidosis, symptoms of severe heart failure (listed below) can occur.

Possible symptoms may include:

• Shortness of breath: This can happen when you are active or when you are lying down.
• Swelling due to fluid accumulation: This is usually seen in the legs, ankles, groin, and abdomen.
• Fatigue:Feeling extremely tired for several days or more.
• Heart Palpitations: An unpleasant sensation that you feel as if your heart is beating without you making any effort.
• Varicose veins in the neck: This happens when the heart is failing, because it has difficulty pumping properly. This increased pressure also puts pressure on the veins in the neck, causing them to enlarge.
• Hepatomegaly: This is also a common complication of heart failure, and is the same reason why the veins in the neck become distended. The increased pressure from the heart also puts pressure on the blood vessels in the liver, causing the organ to swell.
• Kidney problems: Things like inflammation of the kidneys or changes in kidney function.

Other things that may be symptoms of ``Cardiac Amyloidosis'' that are not related to the heart, liver, or kidneys:

• Unusual bruising .
• Swollen tongue.
• Carpal Tunnel Syndrome (Pulmonary Nerve Compression - This can be an early warning sign, often years before the disease appears).
• Lumbar Spinal Stenosis (narrowing of the space around the spinal cord in the lower back).
• Vision problems.
• Hearing problems and deafness.
• Numbness or tingling in the hands or feet.

What are the causes of Cardiac Amyloidosis?

There are many different causes of the different types of amyloidosis, but most of them are related to our DNA .

Think of it like a family cookbook. It contains instructions on how our cells should function, how to make certain proteins. Passing down DNA from parents to children is like your parents hand-writing that recipe book to you.

Genetic mutations are like typos in your DNA recipe book. A capital letter can mess up a recipe. It's exactly the same with diseases like amyloidosis. Your cells are working as hard as they can, but they only know how to follow the recipe. These typos can happen to you in two ways.

Inherited

Cardiac Amyloidosis is often a familial condition. This means you inherit it. This happens when one or both of your parents have a mutation in their DNA, and the mistake in that "recipe book" is copied into yours.

Acquired

Acquired diseases are diseases that you don't inherit, but develop at some point in your life. Wild-type ATTR amyloidosis and dialysis-related amyloidosis are both examples of these acquired diseases. But neither of these are related to mutations in your DNA.

• Wild-type ATTR amyloidosis occurs because your body makes proteins correctly, but over time those proteins become unstable (which is why this disease is so age-related). Eventually, the protein simply folds incorrectly.
• Dialysis-related amyloidosis occurs when a normal protein that cannot be filtered out by dialysis, like your kidneys, builds up in your body. Over time, that protein builds up to a point where it causes problems.

Is this contagious?

No, `(Amyloidosis)` is not a contagious disease in any way.

How does a doctor diagnose this? (Diagnosis)

A doctor will first suspect `(Cardiac Amyloidosis)` based on your symptoms, a physical exam (the doctor looks, feels, and listens to your body for signs of disease), and your family medical history. They will then perform diagnostic tests, imaging tests, and lab tests to confirm whether you have `(Cardiac Amyloidosis)` or not.

If someone in your family has a familial form of amyloidosis, you may not need some tests or may need to have other tests. Genetic testing may also be done to see if you have genetic mutations that can cause cardiac amyloidosis.

What tests are done to diagnose this disease?

If your doctor suspects that you have ``Cardiac Amyloidosis'', they may order one or more of the tests below.

Lab testing

These tests take samples of tissue, blood, or other body fluids. A special dye called Congo red is used in many of these tests. This dye causes the areas where amyloid is deposited to glow green under certain lighting conditions.

• Tissue biopsy: In this, doctors take a small sample of tissue from an area, such as the heart muscle, and test it in a lab. Tissue samples can also be taken from other areas, but if a sample from a non-heart area gives a positive result, it needs to be confirmed with imaging tests.
• Blood testing: In some types of cardiac amyloidosis, amyloid proteins circulate in the blood. Lab tests can detect these proteins.
• Urine testing: In some cases, amyloid proteins may be present in the urine. Testing for the presence of these proteins in the urine can also help in the diagnosis.

Imaging tests

Because cardiac amyloidosis can cause your heart to become enlarged and change shape, imaging tests can help diagnose the condition. Tests that may be done include:

• Echocardiogram:This test is like a bat using sound to find its way. It uses high-frequency sound waves. A device that emits sound is placed on the skin of the chest, and doctors can "see" the heart by looking at how the sound waves bounce off different structures inside the body. This is very useful for seeing if parts of the heart are unusually thick.
• Scintigraphy: For this test, doctors inject a tracer, a slightly radioactive (but harmless) substance, into your blood. The tracer collects in areas where the amyloid protein has accumulated. These areas can then be easily seen with an imaging test called a SPECT scan (Single-Photon Emission Computed Tomography) .
• Magnetic Resonance Imaging (MRI): This test uses a very powerful magnet and computer technology to create an image of the heart. MRI is very detailed, so doctors can see thickening or other changes in the heart.

Electrocardiogram (ECG or EKG)

In an ECG, several sensors (usually 12) are attached to the skin of your chest. The sensors detect the electrical current flowing through your heart and display the strength of that electrical signal as a wave on paper or a screen. Trained specialists, such as doctors, can analyze the wave to see if there are any unusual changes in the way certain parts of your heart conduct electricity.

Genetic tests

Depending on the results of other tests, your doctor may recommend genetic testing. These tests can identify mutations in your DNA that may be causing your amyloidosis.

Is there a treatment for Amyloidosis?

Many types of `(Cardiac Amyloidosis)` can be treated, but the disease cannot always be completely cured . Treatment also varies depending on the type of `(Amyloidosis). In general, early diagnosis is very important . If `(Amyloidosis)` is caught early, long-term damage to the heart can be limited. If it is not detected and treated early, permanent damage can occur. The only way to repair permanent heart damage is a `(Heart Transplant)`.

AL amyloidosis

Treatment for AL Amyloidosis is largely similar to the usual methods of treating cancer. They are:

• Chemotherapy: As with cancer, chemotherapy can destroy malfunctioning plasma cells.
• Stem cell transplant: This treatment is usually done in conjunction with chemotherapy, and replaces the malfunctioning plasma cells with new cells. These stem cells are usually taken from you (autologous). Because they are your own, your body recognizes them and does not reject or react negatively to them.
• Immunotherapy:Your immune system can normally identify and destroy cells that are malfunctioning. In diseases like cancer or AL Amyloidosis, your immune system doesn't recognize those cells as being faulty. Immunotherapy teaches your immune system to recognize and destroy the faulty cells.

ATTR amyloidosis

This type of ``(Amyloidosis)`` occurs when your liver makes proteins that break down easily. This problem requires stopping all treatment. The list below includes both government-approved treatments and those that are still in the research phase.

• Liver transplant: In the past, a liver transplant was the only way to stop your liver from making the wrong proteins. Although this is no longer the only option, it is still a useful and effective method.
• Genetic silencers: ATTR Amyloidosis is caused by a genetic mutation in your DNA, like a typo in a recipe book. Genetic silencers are drugs that act like a temporary recipe card. Instead of your cells following the wrong recipe, they give them new instructions so they can make the protein correctly.
• Stabilizers: These drugs stop TTR molecules from misfolding or breaking.
• Fibril inhibitors: When amyloid proteins start to clump together, they form fiber-like structures called fibrils. These drugs stop the formation of fibrils.

Dialysis-related amyloidosis

This type of `(Amyloidosis)` develops in people who need `(dialysis)` because the `(beta-2M)` protein accumulates. Normally, your kidneys filter and remove that protein, but regular `(dialysis)` cannot do that. This is why it takes years for people on `(dialysis)` to develop this disease. Currently, there are two ways to treat it:

• Kidney transplant: A healthy kidney means you no longer need dialysis, and a transplanted kidney can filter out excess beta-2M protein. A kidney transplant may stop dialysis-related amyloidosis from getting worse, but researchers are not sure whether it will also remove the amyloid protein that has built up in the body.
• Special filters: While regular dialysis filters cannot remove beta-2M proteins, there are special filters that can at least partially remove them. Unfortunately, these filters do not filter out all of the protein, and they do not filter out all of it. This means that even after years of dialysis, dialysis-related amyloidosis can eventually develop.

Non-specific treatments

There are a variety of other treatments and medications that can help people with Cardiac Amyloidosis. These usually treat the symptoms of the disease and may include:

• Heart transplant: People with severe heart damage due to cardiac amyloidosis sometimes need a heart transplant. This surgery is often done after the cause of the amyloidosis has been resolved or treated.
• Anti-arrhythmia medications: These medications help prevent irregular heartbeats, some of which can be dangerous.
• Implantable devices: These devices include pacemakers and implantable cardioverter defibrillators (ICDs) . They manage your heart rate by delivering electrical shocks and preventing dangerous arrhythmias.
• Diuretic medications: These medications specifically help with fluid retention (a common symptom of heart failure) by improving your kidney function. However, you should not take these medications if you have a condition such as severe kidney disease.
• Doxycycline : The light chains in AL amyloidosis are also toxic to your heart cells. For reasons that experts still don't fully understand, the antibiotic doxycycline can counteract those toxic effects.

Are there any side effects of the treatment?

The complications and side effects of treatment for this disease vary widely. Below are some common possibilities. However, your doctor can explain the complications, side effects, and other risks to you better. This is because they know your condition firsthand, so they can tailor their information and explanations to your specific situation.

How soon will I feel better after treatment?

Treatment for Cardiac Amyloidosis is usually limited to managing your symptoms. Some treatments may provide some relief, but the effects are temporary. In some cases, treatments can cause side effects that can make you feel worse for a while, but your doctor can give you medications and guidance to help reduce the severity of those side effects.

Can this be prevented? Or can the risk be reduced?

Unfortunately, amyloidosis cannot be prevented (with one exception, see below). Since the cause of non-inherited amyloidosis is unknown, there is no way to prevent it. Hereditary amyloidosis cannot be prevented either, because it is in the DNA you inherit from your parents.

The only exception is cardiac amyloidosis, which is associated with dialysis. This condition may be prevented if you don't have dialysis for a long time, or if you use special filters to stop the buildup of beta-2M proteins. However, these filters usually don't completely stop the buildup, meaning they are often just a way to delay the onset of the disease.

What is the outlook for this disease?

Cardiac Amyloidosis is a progressive disease, with symptoms of heart failure that become progressively worse. Eventually, the disease can weaken your heart to the point where it can no longer function. If left untreated, the outlook is particularly poor.

Without treatment, the average survival time for people with AL Amyloidosis is less than eight months. For those with the most severe cases, it can be three to six months. For those with ATTR Amyloidosis, the average survival time is two to five years. For those with untreated families with ATTR Amyloidosis, the situation is even worse, with an average survival time of two to three years.

How can I take care of myself and manage my symptoms?

Unfortunately, there aren't many things you can do to help yourself immediately after you develop amyloidosis. If someone in your family has the disease, you should talk to your doctor about genetic testing. While not everyone with a mutation linked to cardiac amyloidosis will develop the disease, it's important to know if you could develop it. That way, you can be aware of the symptoms and start treatment early.

If you have `(Cardiac Amyloidosis)`, it is very important to follow your doctor's instructions regarding medications and treatment. Many of these medications work in very specific ways, and for them to work properly, it is essential to take them exactly as your doctor tells you.

When should I see a doctor or seek urgent care?

After you are diagnosed with Cardiac Amyloidosis, your doctor will schedule regular follow-up visits. Depending on the severity of your condition, you may need to see your doctor more often.

Your doctor will also tell you what symptoms should prompt medical attention. However, in general, call your doctor if you have any of the following symptoms:

• Feeling dizzy or faint when sitting or standing: This is called ``Orthostatic Hypotension.'' This happens because low blood pressure reduces the amount of blood going to the brain when you stand up.
• Swelling of the limbs or abdomen: This is usually due to fluid retention.
• Sudden, significant weight loss: This is an important symptom, especially when you are not trying to lose weight.

When should I go to the ER (Emergency Room)?

Because cardiac amyloidosis can severely disrupt your heart function, some symptoms indicate that you need immediate medical attention.It's necessary. Some of them are:

• Feeling of heart palpitations.
• An unusually fast, slow, or irregular heartbeat.
• Difficulty breathing for any reason.

Finally, a few important points (Take-Home Message)

Cardiac Amyloidosis is actually a somewhat complicated condition, but it's important to be aware of it.

Remember, although this disease can progress slowly, early detection and proper treatment can go a long way in extending your lifespan and improving your quality of life.

Sometimes organ transplants can cure the condition. Thanks to new medications and treatments, many people with this disease can control their symptoms and live for years after the disease develops.

If you have any doubts or questions about this, definitely talk to your doctor . They can give you the right advice. Don't be afraid, get informed, ask questions. You are not alone.

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