What Is Amyloidosis? Symptoms, Diagnosis, and Treatment

Amyloidosis is the name for several rare conditions that cause amyloid (an abnormal protein) to build up in certain organs. This buildup can affect how the organs function. The most common types of amyloidosis are related to blood cell disorders, chronic (long-term) inflammation, and aging. There are also hereditary types of amyloidosis caused by genes that family members pass down.

In this article, we provide an overview of the causes, diagnosis, and treatments of different types of amyloidosis.

What causes amyloidosis?

Amyloidosis is caused by the buildup of an abnormal protein in places it doesn’t belong. 

Proteins are large molecules that do important jobs in the body. Making proteins is a complex process with many steps, like a big assembly line. Amyloid can form when something goes wrong in one of these steps. 

Many different things might lead to amyloid production. Examples include:

• Genetics: Genes are like instruction manuals for your body. They tell it how to make proteins. Changes in genes (mutations) can change the instructions, which can lead to abnormal amyloid proteins. 

• Problems with protein folding: Proteins must fold into special shapes to work correctly. If a protein doesn’t fold just right, it can turn into amyloid.

• Chronic inflammation: Some medical conditions cause ongoing inflammation. This can make inflammatory proteins, which can turn into amyloid. 

So far, scientists have discovered at least 42 different proteins that can turn into amyloid. They will likely discover more.

What are the different types of amyloidosis?

Amyloidosis comes in many different types. They fall into two broad categories: local amyloidosis and systemic amyloidosis.

Systemic amyloidosis

Systemic amyloidosis happens when amyloid builds up in organs that are farther away from where it’s made. The amyloid travels through the bloodstream, so it can affect organs anywhere in your system. 

Scientists have found at least 19 different types of systemic amyloidosis. For example: 

1. AL amyloidosis: This is the most common type. It’s linked to blood cell disorders, like multiple myeloma. It’s caused by a buildup of amyloid made from pieces of antibodies called immunoglobulin light chains.

2. ATTR amyloidosis: This type results from buildup of amyloid made from the protein transthyretin (TTR). TTR proteins can turn into amyloid due to a genetic change that one generation passes to the next. This is called “hereditary (familial) ATTR amyloidosis.” 

3. Wild-type ATTR amyloidosis: In this type, amyloid turns into TTR as part of aging. As we get older, there can be age-related changes in how proteins are made.

4. AA amyloidosis: This type results from buildup of amyloid made from a protein called serum amyloid A. The body produces high levels of this protein during chronic inflammation, like rheumatoid arthritis or chronic infections.

5. Dialysis-related amyloidosis (DRA): This type results from buildup of amyloid made from a protein called beta2-microglobulin. This is a small protein that’s normally cleared from the body by your kidneys. But it can build up in people with end-stage chronic kidney disease (CKD). Modern dialysis techniques have made DRA much less common than before.

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What are risk factors for amyloidosis?

The risk factors that make you more likely to develop amyloidosis include:

• Blood cell disorders, like multiple myeloma

• Family history of amyloidosis (only for hereditary ATTR amyloidosis)

• Conditions that cause chronic inflammation

• Being male (especially ATTR amyloidosis) 

• Older age (for wild-type ATTR amyloidosis)

• Long-term dialysis (more than 4 years)

But it’s important to note that many people with amyloidosis don’t have any risk factors.

What are the symptoms of amyloidosis, and which organs does it affect?

Symptoms of amyloidosis depend on the type of amyloid, the location of the buildup, and how much protein builds up. It can help to think about signs and symptoms in relation to where the amyloid is in your body. 

Below are symptoms linked to amyloid buildup in certain organs:

• Kidneys: protein in your urine, swelling of your legs (edema), kidney failure

• Gastrointestinal system: enlarged liver or spleen, constipation, bleeding in your intestines

• Heart: heart failure due to cardiomyopathy, abnormal heart rhythms (arrhythmia)

• Nerves: numbness and tingling (neuropathy)

• Brain: strokes, bleeding in the brain, dementia

• Skin: nodules, waxy skin, easy bruising

Amyloidosis may also just make you feel generally unwell. You may have severe fatigue, appetite loss, and unintentional weight loss.

How do you diagnose amyloidosis?

Amyloidosis can be tough to diagnose. That’s because it’s rare and the symptoms vary a lot. This means it’s not always one of the first conditions a healthcare professional considers. 

If you have a risk factor for amyloidosis (see above), be sure to tell your primary care provider. Keeping a journal of your symptoms might also help them get to the right diagnosis.

Tests for amyloidosis might include:

• Biopsy: This is a procedure in which a provider removes a small piece of tissue and looks at it under the microscope to check for amyloid. Tissue might come from belly fat, an organ where they suspect amyloid buildup, or your bone marrow. 

• Blood and urine tests: These may provide clues that there’s a blood cell disorder.

• Heart imaging: An echocardiogram can check if amyloidosis is affecting your heart.

How do you treat amyloidosis?

Treatment for amyloidosis depends on the type of amyloid you have. There are two general strategies to fight amyloid: 

1. Stop the production of the abnormal proteins. For example, treatment of AL amyloidosis may use chemotherapy or a stem cell transplant to treat the underlying blood cell disorder. For AA amyloidosis, treatment may use medications that fight infections or use immunosuppressants to treat the disease causing chronic inflammation. 

2. Get rid of the abnormal proteins. There are many medications that can help get rid of ATTR amyloid proteins, especially when they build up in the heart (cardiac amyloidosis). 

In severe cases, when amyloid buildup causes an organ to fail, an organ transplant may be needed.

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Written by:

Samantha C. Shapiro, MD

Samantha Shapiro, MD, is a board-certified rheumatologist and internist with expertise in autoimmune and inflammatory conditions. She founded the division of rheumatology at Dell Medical School at The University of Texas at Austin.

Edited by:

Katie E. Golden, MD

Katie E. Golden, MD, is a board-certified emergency medicine physician and a medical editor at GoodRx.

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