Amyloidosis

Amyloidosis gets its name from “amyloid” proteins. These are abnormal proteins that your body cannot break down naturally. Over time they clump together and begin to cluster in your body’s tissues, organs and systems, causing serious impacts. There are numerous types and subtypes of amyloidosis, and it does not look identical for everyone. The accumulation of these proteins could be localized, meaning they’re primarily affecting a single organ. More commonly, however, amyloidosis is “systemic,” meaning the proteins can accumulate anywhere in the body, except for the brain.^{3 5}

Amyloidosis is sometimes correlated with blood cancers like multiple myeloma.²

Amyloidosis is categorized based on what kind of abnormal protein your body has begun producing. Common types of amyloidosis include:

• Immunoglobulin light-chain (AL) amyloidosis (once called “primary amyloidosis”) – This is the most common type of amyloidosis. In AL amyloidosis, a type of white blood cell called plasma cells begin to produce abnormal antibodies. These antibodies then break apart into pieces that can clump together and accumulate in different parts of the body. This type of amyloidosis. is associated in about 10% of cases with multiple myeloma, a cancer affecting plasma cells. AL amyloidosis often affects the heart and kidneys.
• Amyloid A (AA) amyloidosis (once called “secondary amyloidosis”) – This type of amyloidosis is correlated with inflammatory diseases like rheumatoid arthritis and inflammatory bowel disease, as well as long-term infections like tuberculosis. It often affects the kidneys, as well as the digestive organs, liver and/or spleen.
• Transthyretin (ATTR) amyloidosis – This type of amyloidosis involves a protein called TTR and can be hereditary (passed down through your gene) or “wild-type,” meaning there is no family history. It often affects the heart, kidneys and/or nervous system.

If you have amyloidosis, your care team will perform tests to understand what type of amyloidosis you have and what course of treatment is appropriate.^{1 2 3}

Amyloidosis is considered a very rare disease. The most common type of amyloidosis, called AL amyloidosis, affects fewer than 40 out of every 1 million people.^{1 2}

Risks factors can vary, depending on the type of amyloidosis. Age is a factor for AL amyloidosis, where your risk is significantly higher over the age of 65. Men are also slightly more likely than women to develop this type of amyloidosis.⁶ Having a chronic inflammatory disease increases your risk for AA amyloidosis, although rates of AA amyloidosis have decreased as treatment of these diseases has improved.⁶

If you are receiving kidney dialysis (especially if you were older when you first began treatment), your risk can increase over time. This is called “dialysis-related amyloidosis.”¹

Because early symptoms can resemble those of other conditions, amyloidosis can be challenging to diagnosis at first. Lab tests can help identify the presence of unusual proteins in the blood and urine. Depending on your symptoms, your healthcare provider might order any of the following:

• Genetic tests – If you carry a rare gene mutation known to cause amyloidosis, a genetic test can show this
• Magnetic resonance imaging (MRI) test – This can help provide a clearer view of your internal organs to look for signs of damage
• Echocardiogram – A test using sound waves that can help assess how your heart is functioning
• Biopsy – This involves taking a tissue sample from somewhere in your body to look for indicators of amyloidosis
• Nuclear imaging – Radioactive “tracers” can be injected into your body to reveal organ damage (e.g., to the heart)

In addition to helping confirm a diagnosis of amyloidosis, tests can help your provide “stage” the disease (i.e., determine how far the disease has advanced). The earlier you are diagnosed, the earlier you can begin treatment.^{2 3}

Although there is currently no cure for amyloidosis, treatment options exist. Treatment often seeks to stop new abnormal proteins from forming. For example, chemotherapy can help destroy cells that create abnormal proteins. This can help slow or prevent further damage to your affected organs. Early diagnosis is important, because it allows for earlier intervention.

Depending on the extent of organ damage, you may also need targeted treatment to improve the performance of organs such as the heart and kidneys. In some cases, organ transplants may be needed. If you have AA amyloidosis, which is triggered by long-term infection or inflammatory conditions, keeping those underlying conditions under control can be an important part of treatment.^{2 3}

The prognosis for amyloidosis can vary depending on what type you have, how advanced it is when discovered and how well you respond to treatment. Amyloidosis can be fatal without effective treatment. If you notice anything unusual in your health, don’t hesitate to share your concerns with your health care provider.^{3 6}

Researchers are continuously investigating potential new and more effective treatments. For guidance on the best treatment options for you—and to determine if you may qualify for a clinical trial—please speak with your healthcare provider.