Are you also feeling tired, lethargic, and perhaps unimaginably weight-losing these days? Sometimes, small changes in our bodies can lead to big things. Today we are going to talk about a disease that occurs when a type of protein in our bodies goes a little crazy, misshapen, and gets deposited in our vital organs. This is what we call amyloidosis . Don't worry, we will talk about this simply and in a way that you can understand.
What exactly is amyloidosis?
Simply put, amyloidosis is a condition in which amyloid proteins (which are actually abnormal proteins) in our bodies misfold, clump together, and form small clumps, like fibers called fibrils, which deposit in vital organs like our heart, kidneys, and liver. When they do, and if left untreated, these abnormal protein fibrils can cause serious damage to our organs.
Sometimes these abnormal proteins can accumulate in just a small area of an organ. This is called localized amyloidosis . This can often affect our skin, a small part of the bladder, or the respiratory tract. However, more often these fibrils are deposited in an entire organ or in various organs throughout the body. This is called systemic amyloidosis .
There is good news. Doctors can stop the production of the abnormal proteins that cause amyloidosis. In some types of amyloidosis, our own immune system can help clear these proteins. This can reduce your symptoms and improve the health of the affected organs.
Are there types of amyloidosis?
Yes, doctors classify this disease based on the type of protein affected. The main types seen are:
- AL amyloidosis : This is when your body makes an abnormal amount of light chain proteins (which are a major part of antibodies). These fibrils usually build up in the heart (cardiac amyloidosis) and kidneys. AL amyloidosis can also affect your nerves, skin, and digestive organs. This is the most common type of amyloidosis.
- AA amyloidosis : In this, fragments of serum A protein build up in your organs. This can happen if you have a long-term inflammatory condition, meaning a disease that causes inflammation in the body (for example, rheumatoid arthritis, inflammatory bowel disease, or long-term infections). This can affect your kidneys, digestive organs, or heart.
- ATTR amyloidosis : In this condition, your liver makes an abnormal amount of the transthyretin protein . This abnormal transthyretin protein gets deposited in the heart and sometimes in the nerves. Some types are inherited (familial amyloidosis), while others develop later in life as a person ages (wild-type ATTR).
How common is this disease?
Amyloidosis is actually a relatively rare disease . For example, even in the United States, doctors estimate that only 1,275 to 3,200 new cases of AL amyloidosis are diagnosed each year. So, it's not a common disease.
What are the symptoms of this disease?
The symptoms of amyloidosis can vary from person to person, depending on the type of abnormal protein and where the fibrils are deposited.
Imagine, if these proteins are deposited in the heart (`(cardiac amyloidosis)`), then the symptoms that occur are weakness, difficulty breathing, fainting (this can be a sign of abnormal heart rhythms) or heart failure with swelling in the legs.
Also, if these proteins are deposited in the kidneys (renal amyloidosis), symptoms such as swelling of the feet and legs and seeing bubbles in the urine may occur.
There are several common symptoms that can be seen in amyloidosis:
- Feeling unimaginably tired.
- Weight loss without reason.
- General weakness or numbness in the limbs, inability to grasp something properly.
- Feeling of numbness in the hands.
- Skin changes: This means things like the skin bruising easily and purple spots (purpura) around the eyes.
Why does this amyloidosis occur?
Amyloidosis occurs when proteins in our bodies become misfolded and sticky. They clump together, forming clumps, or fibrils, and deposit in organs and tissues. Doctors call this a "protein misfolding disorder." Proteins that should be in order, in long chains, become tangled and unable to be broken down properly by the body, causing problems.
Things that can cause this are:
- Gene changes (mutations) : You can inherit a gene change (mutation) that makes abnormal amyloid proteins. Or, these gene mutations can occur during a person's lifetime, for unknown reasons.
- Other underlying medical conditions : Sometimes amyloidosis can be caused by a separate medical condition. This is what happens in AA amyloidosis. This is more common in people who have long-term infections or long-term inflammatory conditions like rheumatoid arthritis.
Who is more likely to develop this? (Risk Factors)
There are several risk factors that can affect the development of amyloidosis:
- Age : This disease is most often diagnosed in people aged 60 or older .
- Gender : Men are more likely to develop this disease.
- Race : It has been found that black people in the United States are more likely to inherit the genetic mutation that causes the hereditary form of `ATTR amyloidosis`. (There is little specific data on this in our country, but it is generally said that some races are more prone to certain types.)
- Other medical conditions : Having a chronic inflammatory condition increases the risk of developing AA amyloidosis. Also, between 12% and 15% of people with multiple myeloma, a type of blood cancer, develop AL amyloidosis.
- Long-term dialysis : People with chronic kidney disease who have been on dialysis for a long time can also develop some types of amyloidosis.
- Amyloidosis in the family : Some types of amyloidosis can run in families. This means they can be inherited.
What complications can this cause?
These amyloid deposits can prevent the affected organs from functioning properly. Complications that can occur include:
- Decreased heart function and eventually heart failure.
- Kidney disease and eventual kidney failure .
- Neuropathy (which causes numbness and weakness).
But remember, if you seek treatment with the right medical team, you can reduce the chance of these complications.
How is this disease accurately diagnosed? (Diagnosis)
Doctors perform a biopsy to identify the protein that causes amyloidosis. This involves taking a small piece of tissue from the affected organ or from a place where these fibrils often accumulate (for example, in the fat under the skin of your abdomen or in your bone marrow).
In addition, there are other tests you can do:
- Blood and urine tests : These tests can check for abnormal protein levels in your blood or urine. They can also be used to see how affected organs are working.
- Imaging tests : These tests can help doctors see the damage to affected organs. Depending on where the fibrils are located, you may need an echocardiogram , which looks at the heart, an MRI , which shows detailed images of organs and tissues, or other tests.
- Genetic tests : If your doctor suspects that you have amyloidosis due to a gene mutation, this test may be done.
Are there stages of the disease?
Yes, doctors use amyloidosis staging to determine how far the disease has spread and how severe it is. There are different staging systems for different types of the disease. To stage the disease, your doctor may consider the following:
- The extent of damage to organs.
- Blood tests show the amount of abnormal protein compared to normal amyloid protein.
- Your symptoms and their severity.
It is very important to talk to your doctor about the stage of your amyloidosis and how it will affect your prognosis.
What are the treatments available?
Doctors manage amyloidosis by treating the underlying condition. Treatment can slow the progression of amyloidosis and prevent new fibrils from forming. Medications can also help relieve your symptoms. In AL amyloidosis, when treatment stops new amyloid deposits from forming, your immune system can clear the ones that are already there. Research is still ongoing to find ways to improve the process of clearing amyloid from your organs.
Some of the treatments for amyloidosis are:
- Chemotherapy : This treatment destroys the abnormal plasma cells that make the faulty light chain proteins that cause AL amyloidosis. Many people take a steroid along with chemotherapy drugs.
- Targeted therapy : This treatment targets specific proteins, genes, or tissues that cause amyloidosis. It involves drugs that prevent proteins from misfolding.
- Organ transplant : If the kidneys, liver, or heart are damaged to the point where they can no longer function properly, doctors may recommend a transplant. This can be a treatment for inherited forms of amyloidosis.
What should someone with amyloidosis be concerned about?
Your doctor can treat your symptoms, control the spread of the disease, and in some cases, even help reverse the disease. However, some types of amyloidosis, if left untreated, can cause life-threatening organ damage. That's why it's so important to recognize the disease early and start treatment quickly.
How do you want to take care of yourself too?
Because there are several types of amyloidosis, there is no one-size-fits-all approach to managing the disease. Ask your doctor what steps are right for you.
This may include:
- Taking care of your physical health by eating good nutritious food and exercising regularly .
- Prioritize your mental health . Ask your doctor about support groups for people with amyloidosis. It can be a great way to cope with the stress and loneliness of living with such a rare disease, and to connect with others who are going through the same thing as you.
When should you see a doctor?
Since symptoms vary so much, it can be hard to know when to see a doctor. But in general, if you have any symptoms that you don't understand and don't go away after a while, you should definitely see a doctor. It may not be amyloidosis, but if it is, the sooner you know, the better.
What questions should you ask the doctor?
Here are some questions you can ask your doctor:
- What type of amyloidosis do I have?
- Why did I get amyloidosis?
- What kind of treatment do I need?
- What are the side effects of the treatment?
- What is my prognosis after treatment?
Finally, things to remember (Take-Home Message)
Amyloidosis is a really challenging disease because it affects everyone differently. In some cases, it can be manageable. In other cases, it can be life-threatening. This can be a confusing and overwhelming experience. Also, because it is a rare disease, you may feel alone when you need help the most.
The most important thing is to remember that you are not alone. Your doctor can explain the best treatment options for you, depending on the type of amyloidosis you have. They can also point you to resources and support groups that can help you. Your medical team can guide you to find the best treatment and support you need to fight this disease.
` Amyloidosis, proteins, abnormal proteins, organ damage, heart disease, kidney disease, neurological diseases
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