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Amyloidosis diagnosis

How is amyloidosis diagnosed?

Amyloidosis can be difficult to diagnose. There is no specific blood test and results of investigations vary greatly from patient to patient. The diagnosis of amyloidosis starts when a doctor becomes suspicious of the patient’s symptoms. A definitive diagnosis of amyloidosis can only be made through a biopsy.

Once a diagnosis of amyloidosis has been made further tests will be undertaken in the laboratory to establish which type of amyloidosis you have. This is important as the treatment is radically different for the various types of amyloidosis. Sometimes the tests determining the type of amyloidosis are not conclusive and a DNA test may be suggested.

Bone marrow biopsy

When AL amyloidosis is suspected, a bone marrow biopsy may also be performed to establish the presence of abnormal plasma cells. A bone marrow biopsy involves taking a sample of bone marrow, usually from the back of the hip bone and sending it to the laboratory for examination under the microscope. Regardless of the organs predominately affected, amyloid deposits are often present throughout the body and therefore a less invasive biopsy of abdominal fat tissue, rectum or lip may be performed.

The bone marrow biopsy may be done in the haematologist’s rooms, clinic or day procedure centre and is usually performed under local anaesthesia with sedation given either by tablet or through a small drip in your arm. The sample of bone marrow is examined in the laboratory to determine the number and type of cells present and the amount of haemopoiesis (blood forming) activity taking place there.

Other tests

Further tests will then usually be arranged to establish whether the heart and kidneys or other organs of the body have been affected by the aggregation of the amyloid protein and by how much. These tests include blood and urine tests, ECGs, echo cardiograms and sometimes scans and nerve conduction tests. Not all of these will be necessary for every type of amyloidosis. These results will provide a baseline of your disease and general health which will be compared with later results to assess how well you are progressing and responding to treatment.