AL Amyloidosis (Primary Amyloidosis)

What is AL Amyloidosis?

AL amyloidosis (amyloid light chain or primary amyloidosis) is one type of amyloidosis. Amyloidosis (am-uh-loy-doh-sis) is a rare disorder that happens when plasma cells in your bone marrow change or mutate. These calls make abnormal proteins that become twisted clumps of misshaped proteins that gather on your organs and tissues. In AL amyloidosis, the proteins that mutate are light chain proteins. Light chain proteins are pieces of an infection-fighting antibody made by plasma cells in your bone marrow. AL amyloidosis typically affects your heart and/or your kidneys, but it may affect your stomach, intestine, nerves and skin. Healthcare providers may treat amyloidosis with chemotherapy and/or bone marrow or stem cell transplantation. If diagnosed and treated early on, AL amyloidosis may become a chronic disease. But left untreated, it leads to life-threatening conditions that may be fatal.

What does AL mean in amyloidosis?

There are several types of amyloidosis. Each type is named for the abnormal protein that causes the disease. In AL amyloidosis, A stands for amyloidosis and L stands for light chain, the protein that mutates and causes the disorder. Other common amyloidosis types are serum amyloid A protein (AA amyloidosis) and ATTR (transthyretin) amyloidosis.

How does AL amyloidosis affect my body?

AL amyloidosis is a plasma cell disorder. Plasma cells are part of your immune system. They make antibodies that fight infection. Every plasma cell divides repeatedly to make new cells or exact replicas of the specific plasma cell. Your body makes thousands of different plasma cell clones, each creating specific antibodies dedicated to fighting various infectious intruders. In plasma cell disorders, one plasma cell multiplies uncontrollably, making thousands of single antibodies.

In AL amyloidosis, plasma cells making antibodies made of heavy and light protein chains make too many light protein chains. The light chains misfold and clump together, making amyloid fibrils that end up in your organs, where they can cause significant and life-threatening damage.

Who is affected by AL amyloidosis?

Amyloidosis is a relatively rare disease that affects an estimated 9 to 14 in 1 million people in the United States and 5 to 12 in 1 million people worldwide. AL amyloidosis affects more males than females. It typically affects people aged 60 and older; 64 is the median age at diagnosis.

What are the symptoms of AL amyloidosis?

AL amyloidosis may affect many parts of your body, from your head and neck to your limbs and organs. Many times, AL amyloidosis symptoms resemble other, less serious illnesses. They also develop slowly, which means you might not notice changes in your body right away.

Symptoms that affect your head and neck

If you have amyloidosis, you may have the following symptoms:

• You feel lightheaded when you stand up.
• You have a purple-colored rash around your eyes or on your eyelids.
• Your tongue is larger than normal.

Symptoms that affect your arms and legs

You may have the following symptoms in your arms:

• Numbness, burning or tingling sensations. These may be symptoms of peripheral neuropathy.
• Tingling and numbness in your fingers. These may be symptoms of carpal tunnel syndrome.

You may have the following symptoms in your feet and legs:

• Swollen feet or legs.
• Weak legs.

You may also notice that you bruise or bleed more easily than usual or that the folds in your skin look purple.

Symptoms that may be signs of heart and lung problems

The symptoms below may be signs of other conditions:

• Heart palpitations: This is a sense that your heart is racing or pounding faster than normal.
• Shortness of breath (dyspnea): This may feel as if your chest is tight or you can’t take a deep breath.
• Chest pain: This is pain anywhere in your chest. The pain may be sharp or dull, and it may come and go. Chest pain may be a sign of a heart attack, so call 911 or have someone take you to the emergency room if you have chest pain that lasts for five minutes or more and doesn’t go away when you rest or take medication.
• Fatigue: This is feeling exhausted or drained, as if you’re too tired to get through your daily activities.

Symptoms that may be signs of stomach or intestinal problems

AL amyloidosis may affect your eating habits and cause the following symptoms:

• Poor appetite: Everyone’s appetite changes. But if you’ve lost your appetite for several days for no reason, it may be a symptom of intestinal problems linked to AL amyloidosis.
• Bloating or excessive gas: Bloating and gas are common, if embarrassing, facts of life. But gas buildup may be a symptom of stomach trouble linked to AL amyloidosis.
• Constipation: Constipation is when you poop fewer than three times a week. Constipation that lasts longer than three weeks is a problem you should discuss with your healthcare provider.
• Diarrhea: This is watery poop. Talk to your provider if you have diarrhea that doesn’t go away.

Symptoms that may be signs of kidney or bladder problems

You may notice changes in how your pee appears or how often you need to pee. These symptoms may include:

• More bubbles in your pee than usual.
• Peeing less than usual or having to get up at night to pee.

What causes AL amyloidosis?

AL amyloidosis happens when plasma cells making antibodies made of heavy and light protein chains make too many light protein chains. The light chains misfold and clump together, making amyloid fibrils that end up in your organs.

How do healthcare providers diagnose AL amyloidosis?

Providers may do several different tests to diagnose AL amyloidosis, but the most useful test is taking samples of the organ or organs affected by it. Providers may take the following biopsies:

• Bone marrow biopsy: Providers will do a bone marrow biopsy to remove a small sample of bone marrow from inside a bone.
• Kidney biopsy: Providers may do a kidney biopsy to remove a few small pieces of tissue.
• Heart biopsy: Providers may do a heart biopsy to remove a few small pieces of your heart muscle.
• Fat pad biopsy: Providers remove a small piece of fat tissue from your abdomen.

Additional tests

Your provider may do other tests to see how well your organs are working. Those tests may include:

• Blood tests: They’ll do these tests to check your kidneys, heart, liver and the number of light chains in your blood.
• Urine test: This is usually a 24-hour urine collection test. You collect your pee while at home and bring the sample to your provider. Your provider does this test to see if your kidneys are affected by amyloidosis.
• Electrocardiogram (EKG): EKGs measure heart electrical activity.
• Echocardiogram: This test is sometimes called an ultrasound of your heart, as providers use high-frequency sound waves to measure your heart’s movement.
• Cardiac MRI: Cardiac or heart magnetic resonance imaging tests show detailed pictures of your heart.

How do healthcare providers treat AL amyloidosis?

Providers treat AL amyloidosis with medication and other treatments to ease your symptoms and address any organ damage. They also use treatments to slow down or stop the process causing your body to produce too many amyloids.

Providers may use chemotherapy, immunotherapy or steroids to treat AL amyloidosis. Most people take one or two chemotherapy drugs plus steroid medication. The drugs work together to destroy the plasma cells that make light chain proteins.

It’s important to remember medication can slow or stop AL amyloidosis from getting worse, but treatment doesn’t remove the fibrils already in your organs. After treatment starts, your own immune system can remove these abnormal proteins. Researchers are evaluating new monoclonal antibodies that may be able to remove fibrils.

Your healthcare provider may also talk to you about whether you may benefit from a bone marrow or stem cell transplant.

What is the life expectancy of AL amyloidosis?

Healthcare providers are helping people to live longer with AL amyloidosis. For some people, AL amyloidosis is a long-term or chronic disease that providers can manage with medication. But it’s a very serious disease that may cause life-threatening medical conditions. AL amyloidosis is rare, which makes it difficult for providers to obtain enough information about the life expectancy for someone who has the condition. If you have AL amyloidosis, ask your healthcare provider about your prognosis or potential outcome after treatment. Your provider is your best resource for information on what you can expect.

Can I prevent AL amyloidosis?

No, you can’t prevent AL amyloidosis or other forms of amyloidosis. AL amyloidosis happens when a single plasma cell makes a clone that begins to multiply uncontrollably.

How do I take care of myself?

If you have AL amyloidosis, your healthcare provider will focus on treating your symptoms and slowing or stopping the progress of the disease. You may need ongoing medical treatments that have different side effects. One way you can take care of yourself is finding out about treatment side effects and ways to manage those side effects. Here are some other suggestions:

• Some treatments can affect your appetite. If that’s your situation, ask your provider about healthy eating habits so you can stay strong through treatment.
• Try to get enough rest.
• Exercise is one way to boost your spirits and support a weight that's healthy for you. Ask your provider to recommend exercises that won't put too much strain on your body.
• AL amyloidosis is a rare disease. You may feel lonely or isolated because you have an illness other people don't understand. Ask your provider to recommend support groups or programs for people who have AL amyloidosis.