Have you ever heard of this disease called `AL Amyloidosis`? Probably not, right? This is actually a bit rare, meaning it is not a disease that affects everyone. However, if it does occur, it can be a bit serious. Simply put, it is a change in a type of cell called ``Plasma cells`` that we have in our body, and some of the proteins produced by them go out of control and deposit in various organs of our body, damaging them. It is like a machine that was working well and suddenly started making the wrong parts. Let's talk about this in a little more detail , because it is very important to be aware of this.
What exactly is `AL Amyloidosis`?
This `AL amyloidosis` is one type of a larger group of diseases called `Amyloidosis`. `Amyloidosis` is a rare disease that occurs when there is a change, or `mutation`, in the `plasma cells` in our bone marrow. These changed plasma cells produce an abnormal type of protein. These proteins, like tangled balls of thread, clump together, and deposit in our vital organs and tissues.
In AL amyloidosis, the type of protein that gets messed up like this is the light chain protein. These light chain proteins are parts of the antibodies that our bodies use to fight off disease. These antibodies are made by the same plasma cells I mentioned earlier.
Usually, AL amyloidosis mostly affects our heart and/or kidneys . However, it can sometimes affect the stomach, intestines, nerves, and skin.
The best thing is that if this disease is recognized early and treated quickly , it can sometimes be managed as a chronic disease. However, if left untreated, it can lead to serious life-threatening conditions and even death. So this is not something to be taken lightly.
What do the two letters `AL` in this name mean?
There are different types of amyloidosis. Each type is named after the abnormal protein that causes the disease. In AL amyloidosis, the letter A stands for amyloidosis and the letter L stands for the protein called light chain that causes the disease. Other well-known types of amyloidosis are AA amyloidosis (caused by serum amyloid A protein) and ATTR amyloidosis (caused by transthyretin).
How does `AL amyloidosis` affect my body?
Simply put, AL amyloidosis is a disease of plasma cells. Plasma cells are part of our immune system. Their main job is to make antibodies to fight infections. Imagine that in our bodies, there are thousands of clones of plasma cells that make different types of antibodies to fight different diseases. One plasma cell divides and makes many more cells.
In diseases involving 'plasma cells', a group of these 'plasma cells' divide uncontrollably, producing large quantities of the same type of 'antibodies'.
In AL amyloidosis, when antibodies are made, two protein chains called heavy chains and light chains are made. What happens here is that the plasma cells make too many light chain proteins. These light chains misfold and clump together. These clumped proteins are called amyloid fibrils. These fibrils get deposited in our organs. That's when serious damage begins to occur to those organs, sometimes to the point of being life-threatening.
Who is most likely to get this disease?
Amyloidosis is a relatively rare disease. It is estimated that it affects between 9 and 14 people per million in the United States and between 5 and 12 people per million in other parts of the world. AL amyloidosis is slightly more common in men than in women. It also usually affects people over the age of 60. The average age of diagnosis is around 64 years.
What are the symptoms of `AL amyloidosis`?
`AL amyloidosis` can affect not only the organs of our body, from the head to the feet, but also the limbs. Often, the symptoms of this disease can be similar to the symptoms of other, less serious diseases. Also, the symptoms appear very slowly . So you may not immediately notice a change in your body.
Symptoms related to the head and neck:
- Do you feel dizzy or lightheaded (`lightheadedness`) when you get up?
- Do you have a purple-colored rash around your eyes or on your eyelids?
- Does your tongue feel larger than normal ?
Symptoms related to the hands and feet:
The hands may have these characteristics:
- Do you experience tingling, burning, or prickling sensations in your hands? These could be symptoms of a condition called ``Peripheral Neuropathy``.
- Are you experiencing tingling and numbness in your fingertips? These could be symptoms of ``Carpal Tunnel Syndrome``.
Symptoms in the legs and feet may include:
- Are your legs or feet swollen ?
- Do your legs feel lifeless ?
In addition, you may notice that you bruise easily , bleed easily, or have purple discoloration of the skin where there are wrinkles.
Symptoms that suggest heart and lung problems:
The symptoms below can also be symptoms of other illnesses, but be careful:
- Heart palpitations: A feeling as if the heart is pounding and racing.
- Shortness of breath (dyspnea): A feeling of tightness in the chest, as if you can't take a deep breath.
- Chest pain : Pain anywhere in the chest. This pain can be sharp, dull, or come and go. Chest pain can also be a sign of a heart attack, so if you have chest pain that lasts more than five minutes and doesn't go away with rest or medication, call 911 immediately or have someone take you to the hospital.
- Fatigue : Feeling so tired that you can't even do your daily tasks, as if your body has no life left.
Symptoms that suggest stomach or intestinal problems:
AL amyloidosis can also affect your eating habits. You may experience symptoms such as:
- Poor appetite : Everyone's appetite changes from time to time. But if you have a loss of appetite for several days without any reason, it could be a sign of an intestinal problem related to AL amyloidosis.
- Bloating or excessive gas : Bloating and gas are common, but sometimes embarrassing, symptoms. However, if you have persistent gas, it could be a sign of a stomach problem related to AL amyloidosis.
- Constipation : Constipation is having fewer than three bowel movements per week. If you have constipation for more than three weeks, it's a problem you should talk to your doctor about.
- Diarrhea : Watery stools. If diarrhea persists, you should also tell your doctor.
Symptoms that suggest kidney or bladder problems:
You may notice a change in the appearance of your urine or how often you need to urinate. These symptoms may include:
- Do you see more bubbles in your urine than usual?
- Are you urinating less than usual, or do you have to get up at night to urinate ?
What causes AL amyloidosis?
We've talked about this a little bit before. `AL amyloidosis` is caused by `plasma cells` that make `antibodies`, proteins called `heavy chains` and `light chains`, when those `light chain` proteins are made in excess. These `light chains` misfold, clump together, and form `amyloid fibrils` that then get deposited in our organs. That's when the problems start.
How do doctors diagnose AL amyloidosis?
Doctors use several tests to diagnose AL amyloidosis. The most important test is to take a small sample of tissue or organ that is thought to be affected by the disease. This is called a biopsy. Biopsies can be classified as follows:
- Bone marrow biopsy : This involves taking a small sample of the bone marrow inside a bone.
- Kidney biopsy : A few small pieces of kidney tissue may be taken.
- Heart biopsy : A few small pieces of heart muscle may be taken.
- Fat pad biopsy : A small piece of fatty tissue is taken from the abdomen. This is a relatively easy test.
Additional tests
Your doctor may do other tests to see how well your organs are working. These may include:
- Blood tests : These are done to check how your kidneys, heart, and liver are working, and to check the amount of light chains in your blood.
- Urine test : This is usually a 24-hour urine collection test. You collect your urine at home and bring the sample to your doctor. This test checks to see if your kidneys are affected by amyloidosis.
- Electrocardiogram (ECG): An ECG measures the electrical activity of the heart.
- Echocardiogram : Sometimes called an ultrasound of the heart, this uses high-frequency sound waves to measure the heart's movements.
- Cardiac MRI (Cardiac Magnetic Resonance Imaging) : This test can take very clear, detailed pictures of the heart.
How is AL amyloidosis treated?
Doctors treat AL amyloidosis to reduce your symptoms, control organ damage, and slow or stop the build-up of abnormal amyloid proteins.
Doctors can treat AL amyloidosis with chemotherapy, immunotherapy, or steroids. Most people are given one or two chemotherapy drugs, often in combination with steroids. These drugs work together to destroy the plasma cells that make the light chain proteins.
Importantly, while these drugs can stop or slow the progression of AL amyloidosis, they cannot remove the amyloid fibrils that have already built up in your organs. Once treatment begins, your own immune system can gradually remove these abnormal proteins. Researchers are also looking for new monoclonal antibodies that can remove these fibrils.
Your doctor will also talk to you about whether you might benefit from a ``bone marrow transplant`` or ``stem cell transplant.`` Although these are more complicated treatments, they can be very successful for some people.
Can the development of `AL amyloidosis` be prevented?
Unfortunately, no. There is no way to prevent AL amyloidosis or any other type of amyloidosis. AL amyloidosis occurs when a single plasma cell becomes abnormal and begins to divide uncontrollably. This is not something we can control.
How long can you live with `AL amyloidosis`?
Doctors are now helping people with AL amyloidosis live longer. For some, AL amyloidosis is a long-term, or chronic, condition that can be managed with medication. However, it is important to remember that this is a very serious condition and can lead to life-threatening medical conditions.
Because AL amyloidosis is a rare disease, it is difficult for doctors to know exactly how long someone with the disease can live. If you have AL amyloidosis, ask your doctor about your prognosis after treatment. Your doctor can give you the best information about what to expect.
How do I take care of myself?
If you have AL amyloidosis, your doctor will focus primarily on treating your symptoms and stopping or slowing the progression of the disease. You may need to continue taking medications, and those treatments may have side effects. One way you can take care of yourself is to learn about the side effects of your treatments and how to manage them. Here are some other suggestions:
- Some treatments can affect your appetite . If so, ask your doctor about healthy eating habits that will help you stay strong during treatment. Eating a balanced diet is very important.
- Try to get plenty of rest . Rest is essential for the body when fighting an illness like this.
- Exercise is a great way to keep your mind happy and help you maintain a healthy weight. However, ask your doctor for advice on exercises that won't put too much strain on your body.
- Because AL amyloidosis is a rare disease, you may feel lonely and isolated . Others may not understand the disease. Ask your doctor about support groups or programs for people with AL amyloidosis. Talking to people like that can be a great source of strength.
Finally, a few important points (Take-Home Message)
AL amyloidosis (Amyloid light chain or primary amyloidosis) is a rare disease caused by the deposition of abnormal light chain proteins in organs and tissues of our body. It can be a very serious disease , sometimes managed as a chronic disease, but it can also cause life-threatening medical conditions.
But don't worry, doctors are finding new ways to help people with AL amyloidosis live longer and better lives. If you have AL amyloidosis, ask your doctor about new clinical trials and research to treat the disease. Early detection and treatment are key. It's also important to stay positive and follow your doctor's advice.
` AL amyloidosis, primary amyloidosis, plasma cells, light chain proteins, amyloid fibrils, kidney disease, heart disease
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