What Is Amyloidosis?

Medically reviewed by Brigid Dwyer, MD

Amyloidosis is a rare protein-related condition that occurs when your body produces too many amyloid proteins, causing damage to your organs and tissues. Amyloid proteins are a type of protein that cannot be broken down by the body. Because of this, these proteins build up in your cells and organs, causing a variety of symptoms like pain, fatigue, and shortness of breath.

There are many types of amyloidosis and symptoms depend on the exact type you have and the organs the condition is affecting. Amyloid proteins can develop in your kidneys, brain, and heart, among other organs. Unfortunately, there is no cure for this condition at the time, but several treatments can help you manage the condition and reduce symptoms.

Types

There are four main types of amyloidosis. Each type depends on the exact protein buildup you have and how the condition developed.

• AL amyloidosis: The most common type of amyloidosis, which occurs when there is a buildup of light chain proteins. This condition affects plasma cells, a type of immune system cell that helps your body fight infections. AL amyloidosis can affect several organs in your body and is more common in adults over the age of 65.

• AA amyloidosis: This type of amyloidosis occurs as a side effect of other chronic inflammatory conditions, such as rheumatoid arthritis (RA), diabetes, or inflammatory bowel disease (IBD). This condition causes an abnormal buildup of a protein called serum amyloid A and can affect organs like the spleen, liver, and kidney.

• Hereditary amyloidosis: Also known as familial amyloidosis, this condition is a rare type that occurs when amyloidosis gets passed down from generation to generation. The most common type of hereditary amyloidosis is known as ATTR, which carries gene mutations (changes) in the transthyretin (TTR) gene. This condition commonly affects the liver, but can also cause problems in your kidneys and heart.

• Dialysis-related amyloidosis: This condition occurs when dialysis (a common kidney procedure that helps remove waste from your blood) can't remove enough beta-2 microglobulin from the blood—a protein that your kidneys usually filter. The buildup of this protein can affect your bones and joints and is more common in people who have kidney disease or kidney failure.

Amyloidosis Symptoms

The exact symptoms of amyloidosis will depend on what type you have and which organs have the excess buildup of proteins. Common systemic (body-wide) symptoms of amyloidosis include:

• Fatigue

• Body aches and pain

• Anemia
  

• Shortness of breath

• Low blood pressure

• Unintentional weight loss

This condition can also affect several specific organs.

Causes

Amyloidosis occurs when your body produces an abnormal amount of amyloid proteins that can't be broken down and removed by the body. This can happen when amyloid proteins fold into an incorrect and dysfunctional shape, causing them to lose their normal function and making it difficult for your body to break them down properly. When too many of these abnormal proteins accumulate, organ dysfunction or failure can occur.

Why the folding of these proteins happens depends on the type of amyloidosis you have. For example, AL amyloidosis occurs when plasma cells create misfolded proteins in the immune system which can travel throughout your body and build up in other organs. AA amyloidosis develops as a secondary effect of inflammatory conditions like diabetes or IBD. However, hereditary amyloidosis happens when you have a genetic mutation that causes a change in how amyloid proteins fold.

Risk Factors

While anyone can develop amyloidosis, some factors can increase your risk, such as:

• Age over 50

• Chronic inflammatory conditions like rheumatoid arthritis or inflammatory bowel disease

• Personal history of tuberculosis

• Family history of amyloidosis
  

Diagnosis

Amyloidosis is a difficult condition to diagnose due to how variable symptoms can be. If you are experiencing symptoms of the condition, it's a good idea to see your healthcare provider and get tested. Your healthcare provider may order one or more of the following tests to learn more about your symptoms and confirm a diagnosis of amyloidosis:

• Tissue biopsy: Collects tissue samples from your organs and checks for a buildup of amyloid proteins

• Urinalysis (urine test): Takes a sample of your urine to check for the presence of amyloids in your urine

• Blood test: Assesses whether you have amyloid proteins in your blood

• Imaging scan: Utilizes tests like X-rays, CT scans, and MRIs to visualize your body's tissues to check for amyloid proteins

• Genetic testing: Involves giving a blood or tissue sample to analyze and look for specific gene mutations that are associated with hereditary amyloidosis

Amyloidosis Treatment

Unfortunately, there is no cure for amyloidosis at this time. However, treatment focuses on reducing the amount of amyloid proteins you have in your body and improving symptoms. Common treatment options include:

• Chemotherapy: Helps keep misfolded plasma cells from spreading

• Stem cell transplant: Removes stem cells from a person without amyloidosis to inject them into someone with the condition to lower the presence of amyloid proteins in your blood and bone marrow

• Medications: Uses medicines like Dolobid (diflunisal), Vyndamax (tafamidis), or Tegsedi (inotersen) to reduce the amount of abnormal transthyretin proteins

• Organ transplant: Replaces damaged organs (such as the kidney, heart, or liver) with a donor organ

If you have amyloidosis as a result of an underlying inflammatory disorder, your healthcare team will also focus on treating the condition in hopes of also improving symptoms of amyloidosis.

Prevention

The only type of amyloidosis that can be prevented is AA amyloidosis. That's because underlying inflammatory conditions like rheumatoid arthritis, diabetes, and, inflammatory bowel disease can cause symptoms of amyloidosis to occur. Healthcare providers recommend the following prevention strategies for the following inflammatory conditions:

• Diabetes: Monitoring blood pressure, reducing cholesterol, eating a nutritious diet, getting daily physical activity, and stopping smoking

• Rheumatoid arthritis: Quitting smoking and exercising

• Inflammatory bowel disease: Taking medications to reduce intestinal inflammation and avoiding trigger foods that worsen your inflammation

Complications

Because amyloidosis affects several different organs, people with this condition are at a higher risk of developing complications. The risk of complications rises if you don't receive treatment for your condition. Common complications include:

• Heart failure

• Kidney failure

• Macroglossia (an enlarged tongue)

• Food malabsorption

• Internal bleeding

A Quick Review

Amyloidosis is a rare condition that occurs when your body produces an excess amount of misfolded amyloid proteins. This buildup can damage your organs and tissues, causing a variety of symptoms like fatigue, shortness of breath, and pain. The condition can affect several organs in your body including your kidneys, heart, and brain.

While a cure is not currently available, medications, chemotherapy, and medical procedures can all help manage symptoms.

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