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 in this guide, use the colored boxes on the right side of your screen, or click “Next” at the bottom.
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.
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.
Laboratory tests. Doctors may take samples of the patient’s blood and urine so that tests can be done 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. The sample removed during the biopsy is analyzed by a pathologist (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 will need to stay in the hospital for these tests. Other tests can suggest that amyloid proteins are present, but only a biopsy can make a definite diagnosis.
Bone marrow biopsy and aspiration. These two procedures are similar and often done at the same time. Bone marrow (the soft, spongy tissue that is found inside the center of bones) has both a solid and a liquid part. A bone marrow biopsy is the removal of a small amount of solid tissue using a needle. An aspiration removes a sample of fluid with a needle. The sample(s) are then analyzed by a pathologist. 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, and other types of anesthesia (medication to block the awareness of pain) may be used.
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, so when the waves are bounced back to a computer and 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.
Choose “Next” (below, right) to continue reading this guide to learn about the different treatment options for this non-cancerous condition. Or, use the colored boxes located on the right side of your screen to visit any section.