Amyloidosis: Symptoms, Diagnosis, and Treatment

Amyloidosis is the name for several rare conditions that causes 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, diseases that cause 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 treatment of different types of amyloidosis.

What causes amyloidosis?

The cause of amyloidosis is the buildup of an abnormal protein — amyloid — in places it doesn’t belong. You might think about it like gunk clogging up a drain.

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Proteins are large molecules that carry out critical functions in the body. There are over 20,000 of them! Making proteins is a complex process with many steps, like a big assembly line. Amyloid can form when one step goes wrong on the line. 

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

• Genetics: Genes are instruction manuals for your body, so it knows how to build proteins. Gene changes (mutations) can lead to amyloid production. 

• Problems with protein folding: Proteins fold into special shapes on the assembly line, which allows them to work correctly. If a protein doesn’t fold just right, it can turn into amyloid.

• Chronic inflammation: Medical conditions that cause ongoing inflammation can make inflammatory proteins, which can turn into amyloid. 

So far, scientists have discovered at least 38 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. We can break them down into local amyloidosis and systemic amyloidosis.

Local amyloidosis

Local amyloidosis involves amyloid buildup at the site where those proteins are made. The proteins come from one place, and they stay in that place. For example, Alzheimer disease-associated amyloid (cerebral amyloid angiopathy) causes amyloid buildup in the brain. Cutaneous amyloidosis causes amyloid buildup in the skin. 

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Systemic amyloidosis

Systemic amyloidosis causes amyloid buildup in organs that are farther away. The amyloid travels there through the bloodstream. So far, scientists have found 18 different types of systemic amyloidosis. The three most common kinds are:

1. AL amyloidosis (55%): Blood cell disorders like multiple myeloma cause a buildup of amyloid made from immunoglobulin light chains (pieces of antibodies).

2. ATTR amyloidosis (25%): 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. We call this type “familial,” or “hereditary ATTR amyloidosis.” Or TTR can turn into amyloid due to aging. The assembly line just doesn’t work like it used to anymore. We call this “wild-type ATTR amyloidosis.”

3. AA amyloidosis (3%): AA amyloidosis results from buildup of amyloid made from a protein called serum amyloid A. The body produces high levels of serum amyloid A in conditions that cause chronic inflammation, like rheumatoid arthritis or chronic infections.

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. So it helps to think about signs and symptoms in relation to where the amyloid is in the body:

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

• Gastrointestinal system: enlargement of the liver and spleen, constipation, bleeding from the bowels

• Heart: heart failure due to cardiomyopathy or 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 unwell in general. You may have severe fatigue, appetite loss, and unintentional weight loss.

What are risk factors for amyloidosis?

Risk factors are things that make you more likely to develop a condition. Many people with amyloidosis don’t have any risk factors. But some known risk factors for amyloidosis include:

• Blood cell disorders (like multiple myeloma)

• Family history of amyloidosis (hereditary ATTR amyloidosis)

• Conditions that cause chronic inflammation

How do you diagnose amyloidosis?

Amyloidosis can be tough to diagnose. That’s because it’s rare and the symptoms vary a lot. So many healthcare providers don’t suspect it at first. And if you don’t know what you’re looking for, it’s hard to order the right tests! 

If you have a risk factor for amyloidosis (see above), remind your doctor about this. Keeping track of your symptoms in a journal might also help your provider put the pieces of the puzzle together.

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 or an organ where they suspect amyloid buildup. You may need a bone marrow biopsy if they think you have a blood cell disorder. 

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

• Heart imaging: Your provider may run tests like an echocardiogram to check if amyloidosis affects your heart.

How do you treat amyloidosis?

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

1. Stop the production of the abnormal proteins. To stop the problem at the source, providers can treat the condition creating the amyloid. For example, treatment of AL amyloid may use chemotherapy or stem cell transplant to treat the blood cell disorder. Treatment of AA amyloid may use medications that treat infections or immunosuppressants to treat the disease causing chronic inflammation. 

2. Get rid of the abnormal proteins. There are many new medications that can help get rid of ATTR amyloid proteins, especially when they build up in the heart (cardiac amyloid). Liver transplant might also help, especially when amyloid builds up in the nerves. This is because the liver is the protein factory of the body. So putting in a new liver can stop the production of abnormal proteins. 

Severe cases in which amyloid builds up in an organ and causes it to fail may need organ transplant.

How serious is amyloidosis?

Amyloidosis can be mild or life-threatening. Prognosis depends on the type of amyloidosis, which organs are involved, and how much buildup there is. Other medical conditions may affect the treatment options that are available to you. You and your doctor can work together to figure out what treatment is best for you. 

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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:

Mandy Armitage, MD

Mandy Armitage, MD, has combined her interests in clinical medicine with her passion for education and content development for many years. She served as medical director for the health technology companies HealthLoop (now Get Well) and Doximity.

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