About Amyloidosis

The diagnosis starts with a thorough physical examination and establishment of the patient’s medical history. The symptoms presented will help to determine tests that may be performed.

Monoclonal light chains found in the blood serum or urine by immunofixation electrophoreses (IFE) or free light chain (FLC) assay indicate the precursor protein to AL amyloid may be present. Free light chain assays are only 80-90% sensitive and many facilities do not have them or use them as an initial screening test. Additional testing including a bone marrow biopsy may be required to confirm the presence and nature of the underlying plasma cell disease.

BNP, a hormone produced when the heart is stressed, is measured via a blood test. If elevated, it may indicate heart involvement with amyloid. An echocardiogram may show the thickening of the heart walls, which could also indicate cardiac involvement. If urinary protein levels are markedly elevated, it may indicate kidney involvement with amyloid Elevated alkaline phosphatase is an indicator of possible liver involvement with amyloid. As some of these tests are indicators of several forms of the disease it is important that the results be reviewed in conjunction with all the other test results to assure a proper diagnosis and not be looked at alone.

Any diagnosis of amyloidosis must be confirmed with a positive biopsy. Tissue samples for the biopsy can be taken from abdominal fat or the rectum. Biopsy of the suspected organ is not always necessary but can be useful.

If a hereditary form of amyloidosis is suspected genetic testing is required to confirm the type. This is a simple blood test where the genes are analyzed to determine which mutation is present.

If the initial diagnosis indicates AL amyloidosis, it is very important to also investigate a potential for a hereditary form of the disease, especially in the case of African Americans, patients who have dominant peripheral neuropathy and those with kidney involvement without amyloid in the bone marrow. The genetic testing is required as the course of treatment is completely different for these two forms of the disease.

The treatments for each type of amyloidosis differ. Extension of life and improved quality of life are the major outcomes that are sought.

AL Amyloidosis – The treatment target for AL therapies is to eliminate the precursor protein of the amyloid that is depositing in the body. The first thing that needs to be done for these patients once diagnosed is to assess the extent of organ involvement. This will steer the proper treatment option. In most cases a patient with more than two major organs involved will not be a candidate for a autologous stem cell transplant.

Autologous stem cell transplant involves utilizing the patients own stem cells. The process begins with mobilizing the stem cells from the bone marrow into the blood stream so that they can be collected. The next step is to administer a predetermined dose of IV melphalan (chemotherapy) to kill off all of the cells in the bone marrow. At this point the collected stem cells are re-infused into the blood stream to allow for them to migrate back into the bone marrow where they generate the red and white blood cells and platelets needed for normal blood counts.

For patients who are not candidates for stem cell transplant there area number of oral chemotherapy treatments that are options. They include combinations of dexamethasone and melphalan chemotherapy or immunomodulator drugs such as Thalidomide or lenalidomide (Revlimid). Interferon and other chemotherapy combinations have also been used. New agents are being investigated in recently developed clinical trials that could prove useful in the future.

Dexamethasone and prednisone are steroids. It has been steroids reduces the serum free light chains and slows the deposition of amyloid in the body. The other drugs mentioned are various chemotherapy immunomodulator agents that have shown to have some effect. Sometimes it may be necessary to use a number of the different protocols in succession. Throughout treatment, the serum free light chains and other blood counts are monitored to determine the effectiveness of the treatment.

AF Amyloidosis – In hereditary amyloidosis, the amyloid forming protein is usually produced in the liver. With this is mind, liver transplants are sometimes performed in patients with the intention of preventing further amyloid deposition. Recent research has found that there may be drug therapy options for patients with the disease caused by the mutated transthyretin protein and clinical trials are on-going.

AA Amyloidosis – Since AA amyloidosis is caused by an underlying inflammatory or infectious disease treatment involves eliminating the source of the inflammation and/or infection.

Supportive Care Supportive care is important to address specific problems and symptoms that are caused by the amyloid deposits in the body. In the case of cardiac or kidney involvement, edema (fluid buildup) can be a problem and a diuretic can be prescribed to help minimize the problem. In some cases, compression stockings can be of benefit and elevating the legs can help lesson the swelling. Patients with congestive heart failure due to amyloid in their heart need special diets and medication under the care of a cardiologist who understands the needs related to amyloid heart disease. If the gastrointestinal tract is involved, diet modifications and some medications can help with diarrhea and the feeling of fullness. Some patients with macroglossia (enlarged tongue) have difficulty swallowing and sometimes aspirate fluids into their lungs. Thickeners can be obtained to mix into everyday fluids that will help to minimize aspiration into the lungs.

With early diagnosis, the outlook for patients with amyloidosis has shifted to hopeful in the last decade. The early diagnosis allows treatment to begin before the amyloid protein build-up in the body becomes too great to overcome. Without treatment, the outlook for patients with AL amyloidosis is not good, many passing away within 18 – 24 months after diagnosis. Early diagnosis is the key to managing the disease.

In familial amyloidosis, the outlook varies depending on the type of gene mutation and when the condition is diagnosed. Some patients may survive up to 15 years after the disease presents.

Localized amyloid tumors can be surgically removed and generally do not recur.