What Is AL Amyloidosis?
AL amyloidosis (amyloid light chain), also called primary amyloidosis, is one type of amyloidosis. Amyloidosis is a rare disorder that occurs when there is a change or mutation in the plasma cells produced by the bone marrow. These cells generate abnormal proteins that turn into twisted clumps of oddly shaped proteins that collect on the organs and tissues. The proteins that mutate in AL amyloidosis are light-chain proteins. Light chain proteins are parts of an infection-fighting antibody formed by plasma cells in the bone marrow. AL amyloidosis typically affects the heart and kidneys but may also affect your intestines, stomach, skin, and nerves. Healthcare providers may use chemotherapy to treat amyloidosis, or bone marrow or stem cell transplantation may be required. AL amyloidosis may become a chronic disease if diagnosed and treated early on. But left untreated, it causes life-threatening conditions that may be fatal.
How Does AL Amyloidosis Affect the Body?
AL amyloidosis is a type of plasma cell disorder. Plasma cells constitute a part of the immune system that makes antibodies to fight infections. Every plasma cell repeatedly divides to generate new cells or exact replicas of the specific plasma cell. The body produces thousands of clones of different plasma cells, each creating specific antibodies to fight various infectious intruders. One plasma cell multiplies uncontrollably in plasma cell disorders, making thousands of single antibodies.
In AL amyloidosis, the plasma cells producing antibodies of heavy and light protein chains make too many light protein chains. As a result, the light chains misfold, twist, and clump together, forming amyloid fibrils that reach the organs, causing significant and life-threatening damage.
What Are the Symptoms of Light Chain Amyloidosis or AL Amyloidosis?
AL amyloidosis may affect many body parts, from the head and neck to the limbs and many organs. Many times, the symptoms of AL amyloidosis resemble other, less severe illnesses. They also develop slowly, meaning the changes might not be noticeable in the body immediately.
Symptoms of the Head and Neck
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The feeling of lightheadedness while standing up.
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Purple-colored rash around the eyes or on the eyelids.
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The tongue becomes larger than usual.
Symptoms of the Arms and Legs
The symptoms that may appear in your arms include-
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Burning, numbness, or tingling sensations. These symptoms may indicate peripheral neuropathy.
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Numbness and tingling in the fingers may be indicative of carpal tunnel syndrome.
The symptoms that may appear in the feet and legs include-
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Swelling in the feet or legs.
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Weak legs.
There might also be bleeding or bruising more quickly than the usual or purple appearance of the skin folds.
Symptoms That May Be Indicative of Heart and Lung Problems
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Heart Palpitations - A sense of racing heart or pounding faster than usual.
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Dyspnea - This is a feeling of shortness of breath, or the chest may feel tight and unable to take a deep breath.
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Chest Pain - A pain anywhere in the chest that may be sharp or dull and come and go. Chest pain may signify a heart attack and requires immediate attention. So call 911 or have someone assist you to the emergency room if the chest pain lasts for five minutes or more and does not go away on resting or taking medication.
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Fatigue - Feeling drained or exhausted, as if too tired to go through the daily activities.
Symptoms That May Signify Stomach or Intestinal Problems
AL amyloidosis may affect eating habits and cause the following symptoms-
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Excessive gas or bloating.
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Constipation.
Symptoms That May Signify Kidney or Bladder Problems
There might be noticeable changes in the appearance and frequency of urine. These symptoms may include-
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The formation of more bubbles in the urine than usual.
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Peeing less frequently than normal or getting up at night to pee.
What Causes AL Amyloidosis?
As already mentioned above, AL amyloidosis occurs when plasma cells producing antibodies made of heavy and light protein chains produce too many light protein chains. As a result, the light chains misfold and clot together, making amyloid fibrils reach the organs.
How Is AL Amyloidosis Diagnosed?
Healthcare providers may perform several tests to diagnose AL amyloidosis, but the most helpful test is taking samples of the organ or organs affected by it. They may take the following biopsies-
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Heart biopsy.
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Kidney biopsy.
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Fat pad biopsy.
Additional Tests
Some other tests that may help the healthcare provider to know the performance and health of the organs include:
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Blood Tests - This test will help to check the heart, liver, kidney, and the number of light chains in the blood.
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Urine Test - Usually, a 24-hour urine collection test is done. The healthcare provider tests this to check whether the kidneys are affected by amyloidosis.
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Electrocardiogram (EKG) - This test measures the electrical activity of the heart.
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Echocardiogram - This test is sometimes referred to as the ultrasound of your heart, as it uses high-frequency sound waves to measure the movement of the heart.
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Cardiac MRI - Cardiac magnetic resonance imaging tests show detailed heart images.
How Is AL Amyloidosis Treated?
Healthcare providers may treat AL amyloidosis with medication and other treatments to relieve the symptoms and address organ damage. Some treatments are also used to slow down or end the process causing the body to produce too many amyloids.
These treatments may involve immunotherapy, chemotherapy, or steroids to treat AL amyloidosis. The medications work together to kill the plasma cells that produce light chain proteins.
It is crucial to remember medication can slow or stop the worsening of AL amyloidosis, but treatment does not remove the amyloid fibrils that would have reached the organs. After treatment starts, the immune system can remove these abnormal proteins. Research is undergoing to evaluate new monoclonal antibodies that may be able to remove fibrils.
The healthcare provider may also discuss whether it would be beneficial to go for a bone marrow or stem cell transplant.
Conclusion
AL amyloidosis is a rare disorder that occurs when abnormal light chain proteins produced in the body gather on the organs and tissues. It is a severe illness that may become chronic or cause life-threatening medical conditions. However, healthcare providers are finding new ways to help provide long life to people with AL amyloidosis. If you have AL amyloidosis, ask about clinical trials and research focused on new ways to treat it with your healthcare provider.
