Amyloidosis: Diagnosis

How is amyloidosis diagnosed?

To diagnosis this complex disease, doctors typically begin with a physical exam, followed by blood and urine tests. If abnormal proteins are detected in the blood or urine, the next step is a tissue biopsy.

Pathologists evaluate these tissue samples with special staining, and mass spectrometry analysis. Usually biopsies are conducted in an outpatient setting.

Samples may be taken from the patient’s abdominal fat, or bone marrow. The abdominal fat pad biopsy involves numbing the skin and the fat underneath with a numbing medicine. A needle is then inserted through the skin and into the fat pad underneath. A small piece of fat is removed with the needle. The tissue sample is then examined by a pathologist for abnormal plasma cells or amyloid deposits. 

Occasionally, a biopsy may need to be taken from the heart, liver or kidney to help pinpoint the specific organ affected. For example, if a patient has heart failure then a cardiologist would biopsy the heart, or if a patient has renal failure then a nephrologist would biopsy the kidney.

Because amyloidosis can affect so many different organs, it is critical to have a multidisciplinary team with specialized experience in all of the different organ systems. At Columbia, we bring together experts in many different fields to consult with the patient, during a single appointment, thereby minimizing the number of hospital visits needed.

Our pathologists employ the latest technology to evaluate biopsy samples including dual immunostaining, congo red staining, and computer image analysis. The increased sensitivity of this testing platform allows us to make a definitive diagnosis of amyloidosis—often when other centers have deemed a biopsy negative—and helps us to determine the appropriate therapy.

For a patient with rapidly progressive amyloidosis or one who has visited countless specialists, a definitive diagnosis and immediate treatment can be life-saving.