Amyloidosis: Diagnosis

Approved by the Cancer.Net Editorial Board, 08/2016

ON THIS PAGE: You will find a list of common tests, procedures, and scans that doctors use to find the cause of a medical problem. To see other pages, use the menu.

Doctors use many tests to find, or diagnose, amyloidosis. Doctors may also do tests to learn which treatments could work best. A biopsy is the only sure way for the doctor to diagnose amyloidosis. Imaging tests may be used to find out whether organs, such as the heart or kidneys, are affected.

This list describes options for diagnosing this condition. Not all tests listed below will be used for every person. Your doctor may consider these factors when choosing a diagnostic test:

  • Your signs and symptoms

  • Your age and medical condition

  • The results of earlier medical tests

In addition to a physical examination, the tests listed below may be used to diagnose amyloidosis. After these diagnostic tests are done, your doctor will review all of the results with you.

  • Laboratory tests. Doctors may take samples of the patient’s blood and urine to run tests to learn more about the patient’s disease and general health.

  • Bone marrow aspiration and biopsy. These 2 procedures are similar and often done at the same time to examine the bone marrow. A common site for bone marrow biopsy and aspiration is the posterior iliac crest, a part of the pelvic bone located in the lower back. Bone marrow is the spongy tissue inside your bones. It has both a solid and a liquid part. A bone marrow aspiration removes a sample of the fluid with a needle. A bone marrow biopsy is the removal of a small amount of solid tissue using a needle. A pathologist then analyzes the sample(s).

  • Biopsy. A biopsy is the removal of a small amount of tissue for examination under a microscope. Other tests can suggest that amyloid proteins are present, but only a biopsy can make a definite diagnosis. A pathologist then analyzes the sample(s). A pathologist is a doctor who specializes in interpreting laboratory tests and evaluating cells, tissues, and organs to diagnose disease. When amyloidosis is suspected, tissue samples are most often taken from abdominal fat or bone marrow (see below). A sample may also be taken from the liver, nerves, heart, kidneys, or rectum. However, these are more invasive procedures, and a patient may need to stay in the hospital for these tests.

  • Ultrasound. An ultrasound uses sound waves to create a picture of the internal organs. Areas affected by amyloid protein make different echoes of the sound waves than healthy tissue. When the sound waves bounce back to the computer and are changed into images, the doctor can find these areas inside the body. An ultrasound of the abdominal area may be used to look for enlarged organs.

  • Heart evaluation. A heart evaluation, including an electrocardiogram (EKG or ECG) and an echocardiogram (echo), will look for structural abnormalities in the heart and examine the motion of the walls of the heart.

The next section in this guide is Treatment Options. Or, use the menu to choose another section to continue reading this guide.