Amyloidosis

Diagnosis

Amyloidosis is often overlooked because the symptoms can mimic those of more-common diseases.

Early diagnosis can help prevent further organ damage. Precise diagnosis of the type of amyloidosis you have is important. Treatment varies greatly, depending on your specific condition.

Laboratory tests

Blood and urine may be analyzed for proteins that can indicate amyloidosis. People with certain symptoms also may need thyroid and kidney function tests.

Biopsy

A tissue sample can be checked for signs of amyloidosis. The biopsy may be taken from the fat under the skin on the belly or from bone marrow. Some people may need a biopsy of an affected organ, such as the liver or kidney. The tissue can be tested to see what type of amyloid is involved.

Imaging tests

Images of the organs affected by amyloidosis may include:

• Echocardiogram. This technology uses sound waves to create moving images that can show how well the heart is working. It also can show heart damage that can be specific to amyloidosis.
• MRI. MRI uses radio waves and a strong magnetic field to create detailed images of organs and tissues. These images can be used to check the structure and function of the heart. MRI can be useful in diagnosing whether amyloidosis is affecting the heart.
• Nuclear imaging. In this test, tiny amounts of radioactive material, called tracers, are injected into a vein. This can reveal early heart damage caused by certain types of amyloidosis. It also can help distinguish between different types of amyloidosis, which can guide treatment decisions.

Treatment

There's no cure for amyloidosis. But treatment can help to slow or stop the production of amyloid protein. Treatment can improve symptoms and potentially extend life expectancy. If the amyloidosis has been triggered by another condition, such as rheumatoid arthritis or tuberculosis, treating the underlying condition can be helpful.

Medicines

• Chemotherapy. Some cancer medicines are used for AL amyloidosis to stop the growth of cells that produce the protein that forms amyloid. Most people start therapy that contains daratumumab (Darzalex), which is a monoclonal antibody used to treat multiple myeloma.
• ATTR therapies. Drugs such as tafamidis (Vyndamax; Vyndaqel) and acoramidis (Attruby) have been approved to treat ATTR amyloidosis. These medicines have been shown to slow down the buildup of amyloid in the heart, improve symptoms and prolong life expectancy. Patisiran (Onpattro), eplontersen (Wainua) and vutrisiran (Amvuttra) also are approved for people with familial ATTR amyloidosis. These medicines interfere with the production of the TTR protein in the liver. This helps prevent amyloid buildup.
• Heart medicines. If your heart is affected, you may need to take blood thinners to reduce the risk of clots. You also may need medicines to control your heart rate. Some medicines increase urination, which can reduce the strain on your heart and kidneys.

Surgical and other procedures

• Autologous blood stem cell transplant. This procedure involves collecting your own stem cells from your blood and storing them for a short time while you have high-dose chemotherapy. The stem cells are then returned to your body. The blood stem cells are collected and returned through a vein. This treatment is most appropriate for people with AL amyloidosis whose disease isn't advanced and whose heart isn't greatly affected. Stem cell transplant is used for people who did not respond well to other treatments for AL amyloidosis.
• Dialysis. If your kidneys have been damaged by amyloidosis, you may need to start dialysis. This procedure uses a machine to filter wastes, salts and fluid from your blood on a regular schedule.
• Organ transplant. If amyloid deposits have severely damaged your heart or kidneys, you might need surgery to replace those organs. Some types of amyloid are formed in the liver, so a liver transplant could stop that production.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Preparing for your appointment

You may be referred to a healthcare professional who specializes in blood disorders called a hematologist.

What you can do

When you make the appointment, ask if there's anything you need to do in advance. It may be helpful to:

• Write down your symptoms, including any that may seem unrelated to the reason you scheduled the appointment.
• Make a list of all your medications, vitamins and supplements, including the doses.
• Write down your key medical information, including other conditions.
• Write down key personal information, including any recent changes or stressors in your life.
• Write down questions to ask your healthcare team.
• Ask a relative or friend to go with you, to help you remember what the care team says.

For amyloidosis, some basic questions to ask your healthcare professional include:

• What's the most likely cause of my symptoms?
• What type of amyloidosis do I have?
• What organs are affected?
• What stage is my disease?
• What kinds of tests do I need?
• What kind of treatments do I need?
• Am I at risk of long-term complications?
• What types of side effects can I expect from treatment?
• Do I need to follow any dietary or activity restrictions?
• I have another health condition. How can I best manage them together?

In addition to the questions that you've prepared to ask your care team, don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Your healthcare team is likely to ask you several questions, such as:

• When did your symptoms begin? How severe are they, and are they continuous or occasional?
• Does anything seem to make your symptoms better or worse?
• How is your appetite? Have you recently lost weight without trying?
• Have you experienced any leg swelling?
• Have you experienced shortness of breath?
• Are you able to work and perform your usual daily tasks? Are you often tired?
• Have you noticed that you bruise easily?
• Has anyone in your family ever been diagnosed with amyloidosis?

Living with amyloidosis?

Connect with others like you for support and answers to your questions in the Blood Cancers & Disorders support group on Mayo Clinic Connect, a patient community.

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