Diagnosis

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

Early diagnosis can help prevent further organ damage. Precise diagnosis is important because treatment varies greatly, depending on your specific condition.

Laboratory tests

Blood and urine may be analyzed for abnormal protein that can indicate amyloidosis. People with certain symptoms may also 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 abdomen 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 can also show heart damage that can be specific to particular types of amyloidosis.
  • Magnetic resonance imaging (MRI). MRI uses radio waves and a strong magnetic field to create detailed images of organs and tissues. These can be used to check the structure and function of the heart.
  • Nuclear imaging. In this test, tiny amounts of radioactive material (tracers) are injected into a vein. This can reveal early heart damage caused by certain types of amyloidosis. It can also help distinguish between different types of amyloidosis, which can guide treatment decisions.

Treatment

There's no cure for amyloidosis. But treatment can help manage signs and symptoms and limit further production of amyloid protein. If the amyloidosis has been triggered by another condition, such as rheumatoid arthritis or tuberculosis, treating the underlying condition can be helpful.

Medications

  • Chemotherapy. Some cancer drugs are used in AL amyloidosis to stop the growth of abnormal cells that produce the protein that forms amyloid.
  • Heart medications. If your heart is affected, you may need to take blood thinners to reduce the risk of clots. You may also need medications to control your heart rate. Drugs that increase urination can reduce the strain on your heart and kidneys.
  • Targeted therapies. For certain types of amyloidosis, drugs such as patisiran (Onpattro) and inotersen (Tegsedi) can interfere with the commands sent by faulty genes that create amyloid. Other drugs, such as tafamidis (Vyndamax, Vyndaqel) and diflunisal, can stabilize bits of protein in the bloodstream and prevent them from getting transformed into amyloid deposits.

Surgical and other procedures

  • Autologous blood stem cell transplant. This procedure involves collecting your own stem cells from your blood through a vein and storing them for a short time while you have high-dose chemotherapy. The stem cells are then returned to your body via a vein. This treatment is most appropriate for people whose disease isn't advanced and whose heart isn't greatly affected.
  • 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.

Preparing for your appointment

You may be referred to a doctor who specializes in blood disorders (hematologist).

What you can do

  • Write down your symptoms, including any that may seem unrelated to the reason why you scheduled the appointment.
  • Make a list of all your medications, vitamins and supplements.
  • 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 doctor.
  • Ask a relative or friend to accompany you, to help you remember what the doctor says.

Questions to ask your doctor

  • 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 doctor, don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Your doctor is likely to ask you a number of questions. Being ready to answer them may provide time to go over points you want to spend more time on. You may be asked:

  • When did you first begin experiencing symptoms? 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 normal daily tasks? Are you often tired?
  • Have you noticed that you bruise easily?
  • Has anyone in your family ever been diagnosed with amyloidosis?
By Mayo Clinic Staff