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.

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.