Amyloidosis: Diagnosis

Approved by the Cancer.Net Editorial Board, 02/2015

ON THIS PAGE: You will find a list of the common tests, procedures, and scans that doctors can use to find out what’s wrong and identify the cause of the problem. To see other pages, use the menu on the side of your screen.

Many tests may be used to diagnose amyloidosis and find out which parts of the body are affected. Some tests may also determine which treatments may be the most effective. A biopsy is the only way to make a definitive diagnosis of 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, but not all tests listed will be used for every person. Your doctor may consider these factors when choosing a diagnostic test:

  • Age and medical condition
  • Type of disease suspected
  • Signs and symptoms
  • Previous test results

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.
  • 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.  The sample removed during the biopsy is analyzed by a pathologist. A pathologist is a doctor who specializes in interpreting laboratory tests and evaluating cells, tissues, and organs to diagnose disease. A sample may be 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 does. Therefore, when the 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 necessary 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.
  • Bone marrow aspiration and biopsy. These two procedures are similar and often done at the same time to examine the bone marrow. Bone marrow has both a liquid and a solid 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). A common site for a bone marrow biopsy and aspiration is the pelvic bone, which is located in the lower back by the hip. The skin in that area is usually numbed with medication beforehand. Other types of anesthesia may also be used to block the awareness of pain.

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