Amyloidosis

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. Your doctor may consider these factors when choosing a diagnostic test:

• Age and medical condition
• Severity of symptoms
• Previous test results

In addition to a physical examination, the following tests may be used to diagnose amyloidosis:

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

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 doctor who specializes in interpreting laboratory tests and evaluating cells, tissues, and organs to diagnose disease). 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 is usually numbed with medication beforehand, and other types of anesthesia may be used.

Biopsy. A biopsy is the removal of a small amount of tissue for examination under a microscope. The sample removed from the biopsy is analyzed by a pathologist. A sample may be taken from the rectum, abdominal fat, or bone marrow. A sample may also be taken from the liver, nerves, heart, or kidneys; however, these are more invasive procedures and may require hospitalization. Other tests can suggest that amyloid is present, but only a biopsy can make a definite diagnosis.

Ultrasound. An ultrasound uses sound waves to create a picture of the internal organs. Areas affected by amyloid protein generate different echoes of the sound waves than normal tissue does, so when the waves are bounced back to a computer and changed into images, the doctor can locate them inside the body. An ultrasound of the abdominal area may be necessary to look for enlarged organs.

Learn more about what to expect when having common tests, procedures, and scans.

After these diagnostic tests are done, your doctor will review all of the results with you.