Medically reviewed and verified by Kate Burke, MD, MHA
Estimated reading time: 6 minutes
Amyloidosis is a disease that affects around 200,000 people in the United States each year. It is caused by proteins, called amyloids, that can misfold and build up in different parts of the body. When this happens, the organs they build up in are affected. There are a few types of amyloidosis, some more common than others. Today, PatientsLikeMe is focusing on the most common: AL amyloidosis.
AL amyloidosis is short for amyloid light chain or primary amyloidosis. It is a rare disorder caused by the buildup of abnormal light chain proteins in different organs of the body. This variation makes up about 75% of all amyloidosis diagnoses. These proteins are produced by plasma cells in the bone marrow. They can become misshapen and form twisted clumps, known as amyloid fibrils. While AL amyloidosis mostly affects the heart and kidneys, it can also impact other organs such as the stomach, intestines, nerves, and skin.
Cause of AL Amyloidosis
Each type of amyloidosis is named for the protein that causes the disease. AL amyloidosis comes from a malfunction in plasma cells, a crucial part of the immune system. These are responsible for producing immunoglobulins, also called antibodies, to fight infections. When your immune system detects an infection, the plasma cells in your bone marrow kick into action and start to produce antibodies. In a healthy body, there are a small number of plasma cells waiting to respond to an infection.
For those with AL amyloidosis however, an increased number of abnormal plasma cells grow in the bone marrow. They then start to produce one part of the immunoglobulin called light chains. These light chains misfold and are deposited around the body. These fibrils accumulate in organs, leading to potentially severe and life-threatening damage. While AL amyloidosis is rare, it tends to affect more males than females and primarily happens to people aged 60 and older. The median age of diagnosis is 64.
Symptoms
Part of the difficulty of diagnosing and treating AL amyloidosis is that there is a wide range of symptoms. It can affect many different parts of the body, but there are 5 primary areas to be aware of for AL amyloidosis.
Head and Neck
- Feeling lightheaded when you stand up
- A purple-colored rash around your eyes or on your eyelids
- Your tongue is larger than normal
Arms and Legs
- Numbness, burning, or tingling sensations
- Swollen feet or legs
- Weak legs
- Bruising or bleeding more easily than usual
- Folds in your skin appear purple
Heart and Lungs
- Heart palpitations
- Shortness of breath
- Chest pain
- Fatigue
Stomach or Intestinal
- Poor appetite
- Bloating or excessive gas
- Constipation
- Diarrhea
Kidney or Bladder
- More bubbles in your pee than usual
- Peeing less than usual or having to get up at night to pee
Diagnosis
There are a few tests doctors can do to diagnosis AL amyloidosis. The most useful test is a biopsy, when your physician will take a small sample of the organ or organs they believe have been affected. They can then look at that sample under a microscope and run further tests to look for amyloids. Typically, doctors will look in one of 4 areas when they suspect AL amyloidosis.
- Bone Marrow
- Kidney
- Heart
- Fat Pad
Depending on the progression of the disease, a physician may run a few other tests. A urine test will show whether the condition is affecting your kidneys. A blood test can check for stress and strain on the heart. This won't help diagnose the condition, but helps doctors create a treatment plan. Because the survival of AL amyloidosis is mostly dependent on how severely the heart is affected, a lot of attention is paid to this area. An electrocardiogram can help measure the heart's electrical activity. An echocardiogram uses high-frequency sound waves to measure your heart's movement. A cardiac MRI gives your doctor detailed pictures of your heart. All these tests are done to measure damage and progression of AL amyloidosis.
Treatment
The primary goal of treatment for AL amyloidosis is to alleviate symptoms and manage organ damage. There are some ways to slow the progression of the disease as well. Providers often use chemotherapy, immunotherapy, or steroids to target plasma cells. Often, people take a combination of one or two chemotherapy drugs plus a steroid regimen. These drugs work together to destroy the plasma cells that produce light chain proteins. While treatment can slow or halt disease progression, it cannot get rid of the existing amyloid fibrils already built up in organs. Your immune system can however!
There are two further treatment options depending on the progression of the disease. Around 20% of patients with amyloidosis are eligible for stem cell transplantation. A bone marrow transplant from a donor who does not have amyloidosis can stop the production. of amyloid proteins. This is a long-term management option for the condition. If the heart has been heavily damaged, it may require a transplant or the use of a mechanical assist device. Transplants require a heathy donor organ. A ventricular assist device is a pump used to support heart function and blood flow.
Living with AL amyloidosis means ongoing medical management and staying on top of side effects. You should try to maintain a healthy lifestyle! Eat healthy food, get adequate sleep, and exercise. Support groups and programs tailored to people with AL amyloidosis can give you valuable emotional and informational support. This complex condition requires careful management and attention. Understanding the disease process, symptoms, diagnoses, and treatment options can help you navigate your healthcare journey effectively.
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