AL Amyloidosis (Primary Amyloidosis)

AL amyloidosis (amyloid light chain or primary amyloidosis) is a rare disease that can damage your heart, kidneys and other parts of your body. It’s the most common type of amyloidosis, which develops when plasma cells in your bone marrow change (mutate).

The changed plasma cells make abnormal proteins called light chains. Unlike many blood cancers, this group of cells usually grows slowly. The abnormal proteins become twisted clumps that build up in your organs and tissues and keep them from working as they should.

Males are more likely to have this disease. It typically affects people age 60 and older. Early diagnosis and treatment can turn AL amyloidosis into a chronic disease. Without treatment, it can lead to life-threatening organ damage.

Symptoms of AL amyloidosis

This disease can affect several areas of your body and cause different symptoms. AL amyloidosis typically affects your heart and/or kidneys. But it can affect your stomach, intestines, nerves and skin. Specific symptoms include:

• Arms and legs: Burning or tingling feeling in your fingers, arms and legs, swollen arms and legs, weakness in your legs
• Bladder and kidneys: Peeing less than usual, needing to pee at night, bubbles in your pee
• Head and neck: Purple-colored rash around your eyes or eyelids, feeling lightheaded when you stand up, swollen tongue
• Heart: Chest pain, heart palpitations, shortness of breath, fatigue
• Stomach: Bloating, loss of appetite, constipation, diarrhea

AL amyloidosis causes

This disease starts when a single plasma cell changes and makes copies of itself. The copies all make the same abnormal light chain protein. Experts don’t know why this happens.

How doctors diagnose AL amyloidosis

A healthcare provider will do a physical exam and ask about your symptoms. AL amyloidosis can cause symptoms that resemble many diseases. Your provider may do several tests to narrow down possible causes. Tests may include:

• Blood tests: These check your kidneys, heart, liver and the number of light chains in your blood.
• Imaging tests: These check for organ damage. For example, you may have heart health tests like an EKG, echocardiogram or cardiac MRI.
• Urine test: This is usually a 24-hour urine collection test to check your kidneys.

Your provider may do biopsies to take tissue from your bone marrow, heart, kidneys or fat pads. A medical pathologist will use a special stain to check for amyloid deposits and confirm which type of amyloidosis you have. This step matters because each type needs different treatment.

How is AL amyloidosis treated?

Your treatment may be a combination of medications that destroy abnormal plasma cells. This puts the brakes on light chain protein buildup in your organs. The most common first treatment combines a targeted immunotherapy medication (daratumumab) with chemotherapy and a steroid.

This disease may damage your heart or kidneys, among other organs. You may need treatment to manage issues like congestive heart failure, kidney issues or neuropathy.

Some people may have an autologous stem cell transplant. For this procedure, you receive high-dose chemotherapy to destroy the abnormal plasma cells. Then, your own healthy stem cells are returned to you to rebuild your bone marrow.

Researchers are now investigating several new potential treatments for AL amyloidosis:

• CAR T-cell therapy: This is to treat AL amyloidosis that comes back after treatment. It may be an option when chemotherapy or immunotherapy doesn’t work.
• Bispecific T-cell engager (BiTE) therapy: This is for newly diagnosed and recurrent AL amyloidosis. These medications help your immune system find and destroy the abnormal plasma cells.
• Antibody medications: These are designed to remove amyloid deposits that have already built up in your organs. Current treatments stop your body from making more amyloid, but they don’t remove the deposits that are already there. The combined treatments may help damaged organs recover.

When should I see my healthcare provider?

Talk to a provider right away if you have:

• Swelling in your ankles or legs that doesn’t improve overnight
• Lightheadedness when you stand up that hasn’t happened before
• Pee that’s often foamy

Contact them if the following symptoms last more than two weeks:

• Fatigue
• Losing weight without trying
• Swelling in your ankles and legs

These are general symptoms that AL amyloidosis and many other diseases may cause. Talking to a provider is the first step toward understanding what’s going on in your body.

AL amyloidosis can damage your heart. Call 911 right away if you have:

• Severe chest pain
• Severe shortness of breath
• A racing or pounding heartbeat
• Sudden severe lightheadedness

What can I expect if I have AL amyloidosis?

For some people, AL amyloidosis is a long-term or chronic disease they can manage with medication. Even so, a chronic disease comes with its own set of medical challenges. You may need ongoing medical care for the issues AL amyloidosis can cause. You'll have regular checkups and tests. Ask your healthcare team to explain how the disease may affect your health in the long run.

What is the life expectancy for someone with this disease?

Newer treatments are helping people live longer with AL amyloidosis. One study found many people now live five to 10 years or more after their diagnosis. That includes some people whose hearts were seriously affected when the disease was found. 

AL amyloidosis is rare, which makes it hard for experts to estimate life expectancy. And everyone’s situation is a bit different. How long you’ll live with this disease may depend on factors like:

• Which organs are affected, especially if the disease affects your heart
• How early treatment starts
• How well the disease responds to treatment

Your healthcare provider is your best source of information on your outlook and life expectancy.

Why is this disease called AL 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 amyloid and “L” stands for light chain, the abnormal protein that builds up and causes the disorder.

Other common amyloidosis types are serum amyloid A protein (AA amyloidosis) and ATTR (transthyretin) amyloidosis.