Amyloidosis is a rare disorder that happens when proteins in your body change or mutate, turning into twisted clumps of misshapen proteins that gather on your organs and tissues. Some amyloidosis types affect specific organs such as your heart, kidneys, liver and lungs. Other types spread throughout your body. Treatments include organ transplantation, chemotherapy or targeted therapies.


What is amyloidosis?

Amyloidosis is a rare disorder that happens when proteins in your body change or mutate, becoming twisted clumps of misshapen proteins that gather on your organs and tissues. Amyloidosis can be widespread (systemic) or localized to one area. Systemic is the most common form of amyloidosis, affecting organs and multiple tissues. In some instances, systemic amyloidosis may cause life-threatening organ damage. Localized amyloidosis only affects one organ or part of your body. There are several types of amyloidosis. Some types affect specific organs such as your heart, kidneys, liver and nerves. Other types spread throughout your body. Healthcare providers can’t cure amyloidosis, but they can slow its progress and ease symptoms.


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How does amyloidosis affect my body?

Healthcare providers call amyloidosis a “protein misfolding disorder.” Your proteins are long molecules that stretch out in long chains. They’re multitaskers that do everything from providing energy, balancing fluids and helping with immunity to providing structure, carrying material and regulating your body’s processes. Normally, proteins leave your bloodstream once they finish their assigned tasks. In protein misfolding disorder, proteins take on abnormal shapes that get deposited in many organs, can’t be removed and your body can’t use.

These abnormal proteins navigate your bloodstream and find their way to healthy organs. They tend to clump together, making amyloid deposits (or fibrils) that may build up on different organs or in different places throughout your body.

Systemic amyloidosis may affect just about any organ, heart, kidneys, liver, GI tract, joints, skin and blood vessels. Sometimes, the amyloid deposits build up so much that they can cause organ failure. Think of debris floating down a river that snags on a rock or tree limb. Over time, more and more debris catches in the snag, forcing the river to flow around the large snag. Just like debris caught on a snag, amyloid deposits accumulate within organs, eventually affecting organ structure and tissue function. Sometimes, amyloid deposits caused by systemic amyloidosis can literally take over healthy organs, replacing the organs with amyloid deposits. Localized amyloidosis typically affects your skin, bladder and airways.

Is amyloidosis common?

Amyloidosis is a rare disease. Healthcare providers estimate that various types of amyloidosis affect about 4,000 people in the United States each year.


Who is affected by amyloidosis?

Healthcare providers typically diagnose amyloidosis in people ages 50 to 65. The diseases affect more men and people assigned male at birth than women and people assigned female at birth.

What are the three common types of amyloidosis?

Systemic amyloidosis — when you have abnormal protein deposits throughout your body — is the most common form of amyloidosis. Healthcare providers categorize amyloidosis by the specific type of amyloidosis protein affected. The three most common amyloidosis types are:

  • Amyloid light chain (A-light chain or AL): AL is a plasma cell disorder. Plasma cells are part of your normal immune system. They make antibodies that fight infection, including immunoglobulin proteins made of heavy and light protein chains. In AL amyloidosis, your plasma cells make too many light chains that are abnormal. The light chains misfold and clump together, making amyloid fibrils that end up in your organs. AL amyloidosis typically affects your heart (sometimes called cardiac amyloidosis) and kidneys. It may also affect your stomach, large intestine, liver, nerves and skin.
  • Amyloid serum A protein (AA or SAA): This form of amyloidosis happens when there’s too much serum A protein in your body. Serum A protein builds up if you have abnormal inflammation in your body for a long time. Conditions that may cause AA include rheumatoid arthritis, inflammatory bowel disease and chronic infections. AA may affect your kidneys, liver, stomach and intestines, and rarely, your heart.
  • Amyloid transthyretin protein or TRR protein (ATTR): Your liver makes transthyretin (pronounced “trans-thigh-re-tin”) protein, also called TRR. This protein carries thyroid hormone and vitamin A in your blood. ATTR happens when the transthyretin protein breaks apart, creating fibrils that land in your heart and/or your nerves. ATTR is an inherited disorder.


Symptoms and Causes

What are the symptoms of amyloidosis?

Amyloidosis symptoms vary based on specific proteins and where their fibrils land. For example, cardiac amyloidosis symptoms include fainting, shortness of breath or weakness that may be signs of abnormal heart rhythms or heart failure. Renal (kidney) amyloidosis symptoms may include swollen feet and legs. General symptoms may include:

  • Fatigue: This is extreme exhaustion or tiredness. Fatigue is a common symptom of anemia, which happens when you have low levels of healthy red blood cells.
  • Unexplained weight loss.
  • Weak grip: This may be a symptom of carpal tunnel syndrome.
  • Joint pain: Too much amyloid serum A protein may cause joint pain.
  • Rashes: Systemic or localized amyloidosis may cause a rash or bruising around your eyes.

What causes amyloidosis?

Amyloidosis happens when proteins in your body change, becoming clumps of misshaped proteins that land on specific organs and tissues. Researchers have identified more than 30 different amyloid proteins.

Sometimes, amyloidosis happens because you have an underlying condition that may be linked to an amyloidosis type. For example, between 12% and 15% of people who develop AL also have the blood disorder called multiple myeloma. Multiple myeloma happens when abnormal plasma cells develop in your bone marrow and multiply uncontrollably.

Here’s information about factors that may cause the two other main types of amyloidosis:

  • Amyloid serum A protein (AA): You may develop this type of amyloidosis if you have an inflammatory illness.
  • Amyloid transthyretin protein or TRR protein (ATTR): You may develop this amyloidosis type by inheriting mutated DNA that makes TTR proteins more unstable and more likely to develop amyloid fibrils. You may also develop ATTR as you get older. As you age, the normal TTR protein becomes unstable, takes on abnormal shapes and forms fibrils. This is wild-type ATTR amyloidosis.

Diagnosis and Tests

How do healthcare providers diagnose amyloidosis?

Healthcare providers may do several different tests, but ultimately, they use bone marrow aspiration and bone marrow biopsy to identify the mutated protein causing specific amyloidosis types, including:

  • Blood tests: Providers may test for abnormal protein levels in your blood.
  • Urine tests: Providers may test your urine for abnormal protein levels.
  • Computed tomography (CT) scan: Providers may use this imaging test that providers may use to check damage to affected organs.
  • Echocardiogram: This test checks your heart condition.

Management and Treatment

How do healthcare providers treat amyloidosis?

Healthcare providers treat amyloidosis by treating symptoms and organ damage and by treating the underlying cause. For example, abnormal plasma cells cause AL amyloidosis, so healthcare providers use chemotherapy to destroy the abnormal plasma cells. Other common treatments for different amyloidosis types may include:

  • Targeted therapy: Targeted therapy is treatment that targets specific proteins, genes or the tissues that cause amyloidosis. Targeted therapy for amyloidosis includes angiogenesis inhibitors, monoclonal antibody therapy and proteasome inhibitors.
  • Bone marrow or stem cell transplantation: Providers use intense doses of chemotherapy to destroy bone marrow containing abnormal plasma cells, replacing them with healthy plasma cells.
  • Organ transplantation: Providers may recommend kidney, liver or heart transplantation to treat certain types of hereditary amyloidosis.


Can I prevent amyloidosis?

No, you can’t prevent amyloidosis. Researchers have identified several risk factors. But you can’t control those factors and prevent amyloidosis.

People often develop some form of amyloidosis because they have an underlying condition. In some cases, they inherit a form of amyloidosis. You may be able to control how much amyloidosis affects your quality of life by understanding your risk for developing amyloidosis so you and your healthcare provider can monitor your well-being so they can diagnose and treat amyloidosis while the disease is in its early stages.

Outlook / Prognosis

What can I expect if I have amyloidosis?

If you have amyloidosis, your healthcare provider can treat symptoms and slow the disease’s progress, but they can’t cure amyloidosis. Some amyloidosis types may cause life-threatening organ damage. There are several types of amyloidosis affecting people in different ways. If you have amyloidosis, ask your healthcare provider how the disease may affect you, including your prognosis or expected outcome after treatment.

Living With

How do I take care of myself?

Healthcare providers can treat amyloidosis but they can’t be sure it won’t come back. One way to take care of yourself is to be sure you follow your healthcare provider’s recommendations for follow-up tests.

There are several types of amyloidosis, which means there isn’t a one-size-fits-all approach to managing amyloidosis. Ask your healthcare provider about steps that make sense for you:

  • Talk to your provider about establishing healthy eating habits that help maintain a well-balanced and nutritious diet.
  • Exercise is one way to boost your spirits and support a healthy weight. Ask your provider to recommend exercise that may help you without putting too much strain on your body.
  • Amyloidosis is a rare disease. You may feel lonely or isolated because you have an illness other people may not understand. Ask your provider to recommend support groups or programs for people who have amyloidosis.

When should I see my healthcare provider?

Amyloidosis can come back after treatment. Your healthcare provider will schedule regular follow-up appointments to check for signs that amyloidosis has come back and monitor your overall health. You may have regular physical examinations, blood tests and imaging tests.

What questions should I ask my healthcare provider?

If you have amyloidosis, you probably have many questions about your diagnosis, possible treatment and prognosis, such as:

  • What kind of amyloidosis do I have?
  • Why did I develop amyloidosis?
  • What’s the treatment?
  • What are treatment side effects?
  • What will treatment accomplish?

A note from Cleveland Clinic

Amyloidosis happens when your cells mutate and make abnormal proteins, transforming from helpful multitaskers to clumps of misshapen proteins. These proteins can result in life-threatening damage to your organs and tissues. Amyloidosis is an unusually challenging illness because it affects people in many different ways and because it can come back after treatment. It’s also challenging because it’s rare. Your healthcare provider knows there’s more to living with a rare disease than managing symptoms and treatment. If you’re feeling overwhelmed and isolated by amyloidosis, ask your provider for help. They’ll be able to recommend support groups and other resources that may help you feel less alone.

Medically Reviewed

Last reviewed on 06/24/2022.

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