Amyloidosis: Symptoms, Types & Treatments

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Amyloidosis is a rare disorder that happens when proteins in your body turn into misshapen clumps. The abnormal proteins gather on your organs. Some amyloidosis types affect specific organs like your heart, kidneys, liver and lungs. Other types spread throughout your body. Treatments include organ transplants, chemotherapy or targeted therapies.

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Amyloidosis (pronounced “am-uh-loy-doh-sis”) happens when amyloid proteins (abnormal proteins) in your body become misshapen clumps that gather on organs, like your heart, kidneys or liver. Without treatment, these abnormal proteins (“fibrils”) can cause serious organ damage.

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Sometimes, the abnormal proteins gather in a small area on a single organ (localized amyloidosis). Localized amyloidosis usually affects your skin, or small areas of your bladder or airways. More commonly, the fibrils build up on an entire organ or on different organs throughout your body (systemic amyloidosis).

Healthcare providers can stop the production of abnormal proteins that cause amyloidosis. Your body’s own immune system can help remove these proteins in a few types of amyloidosis. This can improve your symptoms and the health of the involved organs.

Healthcare providers categorize amyloidosis by the type of protein affected. The most common types are:

AL amyloidosis. With AL amyloidosis, your body makes too many abnormal light chain proteins — a key component of antibodies. The fibrils usually gather in your heart (cardiac amyloidosis) and kidneys. AL amyloidosis may also affect your nerves, skin and organs in your digestive system. It’s the most common type of amyloidosis.
AA amyloidosis. Fragments of serum A protein gather in your organs. This can happen if you have a condition that causes long-term inflammation, like rheumatoid arthritis, inflammatory bowel disease or chronic infection. It may affect your kidneys, digestive organs or your heart.
ATTR amyloidosis. Your liver makes abnormal transthyretin protein. The faulty transthyretin proteins build up in your heart and potentially your nerves. Some forms are inherited (familial amyloidosis), while others happen in a person’s lifetime as they age (wild-type ATTR).

Amyloidosis is a rare disease. Healthcare providers estimate that in the U.S., there are only 1,275 to 3,200 new cases of AL amyloidosis diagnosed each year.

Amyloidosis symptoms vary based on the specific protein type and where the fibrils land. For example, cardiac amyloidosis symptoms include weakness or shortness of breath, fainting (a sign of abnormal heart rhythms) or leg swelling with heart failure. Renal (kidney) amyloidosis symptoms may include swollen feet and legs or bubbles in your pee.

General symptoms of amyloidosis may include:

Excessive fatigue
Unexplained weight loss
General weakness or weak grip
Numbness in your hands
Skin changes, including easy bruising and purple circles around your eyes (purpura)

Amyloidosis happens when proteins in your body become misshapen and sticky. They make clumps, or fibrils, that land on organs and tissues. Healthcare providers call amyloidosis a “protein misfolding disorder.” Instead of being neat, long chains that your body can break down, the fibrils get stuck in organs and cause problems.

Causes of amyloidosis include:

Gene changes (mutations). You may inherit a change (mutation) in the gene that makes abnormal amyloid proteins. These mutations can happen during a person’s lifetime for unknown reasons.
Underlying conditions. Amyloidosis may happen because of a separate condition. This is the case with AA amyloidosis. It’s more common in people with conditions that cause long-term inflammation, like long-term infections or rheumatoid arthritis.

Factors that increase your risk of amyloidosis include:

Age. Most people diagnosed with amyloidosis are 60 or older.
Sex. Amyloidosis is more common in men.
Race. In the U.S., people who are Black are more likely to inherit the gene mutation that causes the hereditary type of ATTR amyloidosis.
Other conditions. Having a condition that causes chronic inflammation increases your risk of AA amyloidosis. Between 12% and 15% of people who develop AL also have multiple myeloma, a type of blood cancer.
Long-term dialysis. Some forms of amyloidosis occur in people with chronic kidney disease who’ve received dialysis treatment for a long time.
Family history of amyloidosis. Some forms of amyloidosis run in families.

Amyloid deposits can keep the affected organs from working as they should. Potential complications of amyloidosis include:

Reduced heart function and eventually heart failure
Kidney disease and eventually kidney failure
Neuropathy (with numbness and weakness)

Working with the right team of healthcare providers can reduce your chance of complications.

Healthcare providers use a biopsy to identify the protein causing amyloidosis. They may remove a tissue sample from the affected organ or in places where fibrils often collect. These places include your bone marrow or the fat beneath the skin on your belly.

Other tests you may need include:

Blood and urine tests. Providers may test for abnormal protein levels in your blood or pee. They may also use these tests to see how affected organs are functioning.
Imaging tests. These tests help providers check damage to affected organs. Depending on where the fibrils are, you may need an echocardiogram (tests your heart), an MRI (shows organs and tissues in detail) or other tests.
Genetic tests. You may need genetic testing if your provider suspects that you have a gene mutation that’s causing amyloidosis.

Healthcare providers stage amyloidosis to determine how advanced it is. The different types of this condition involve different staging systems. To stage amyloidosis, your provider may consider:

The extent of organ damage.
Blood test markers, or the amount of normal versus abnormal amyloid proteins.
Your symptoms, including their severity.

Ask your provider what your amyloidosis stage means for your prognosis (likely outcome following treatment).

Healthcare providers manage amyloidosis by treating the condition that’s causing it. Treatments can slow the progression of amyloidosis or prevent new fibrils from forming. They can also ease your symptoms with medications. In the case of Al amyloidosis, once treatment stops new amyloid deposits from forming, your immune system can remove those that are already there. Research is ongoing to find ways of enhancing this process of removing amyloids from organs.

Treatments for amyloidosis include:

Chemotherapy. This treatment destroys the abnormal plasma cells that make faulty light chain proteins in AL amyloidosis. Many people take chemotherapy drugs alongside a steroid.
Targeted therapy. This treatment targets specific proteins, genes or tissues that cause amyloidosis. It includes medications that can prevent proteins from misfolding.
Organ transplant. Providers may recommend a kidney, liver or heart transplant if these organs are too damaged to work properly. This is a potential treatment for inherited forms of amyloidosis.

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Your healthcare provider can treat symptoms, slow the disease’s progress and, in some cases, they can help reverse amyloidosis. Still, some amyloidosis types may cause life-threatening organ damage without treatment. This is why early diagnosis and prompt treatment are so important.

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

This may include taking care of your physical health by eating nutritious foods and exercising regularly. Caring for yourself also involves prioritizing your mental health. Ask your provider to recommend support groups for people who have amyloidosis. Connecting with others can help you cope with the emotional challenges of living with a rare disease.

It can be tough to know when to see a provider, as the symptoms of amyloidosis are so varied. As a general rule, schedule an appointment if you’re experiencing unexplained symptoms that don’t improve. Your symptoms may or may not be related to amyloidosis. But if they are, the sooner you’re diagnosed, the better your outlook.

Questions to ask include:

What kind of amyloidosis do I have?
Why did I develop amyloidosis?
What treatments will I need?
What are the treatment side effects?
What is my outlook following treatment?

Amyloidosis is a challenging illness because it affects people in different ways. In some cases, it’s manageable. In others, it can be life-threatening. This can lead to feelings of uncertainty. It’s also challenging because it’s rare. This can leave you feeling isolated at the very moment when you need others most.

The important thing to remember is that you’re not alone. Your healthcare provider can explain your best treatment options based on the type of amyloidosis. They can also share resources and recommend support groups. Your care team can guide you as you work to find the best treatments and the support you need to fight this disease.

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Cleveland Clinic’s health articles are based on evidence-backed information and review by medical professionals to ensure accuracy, reliability and up-to-date clinical standards.

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When your body’s proteins clump together and affect your organs, Cleveland Clinic is here to help. We diagnose and treat all types of amyloidosis.

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Peptide Therapy Guide Editorial Team