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Amyloidosis

What is Amyloidosis?

Amyloidosis is a group of rare diseases in which amyloid proteins build up in the body’s organs. Amyloid is an abnormal protein made by cells in the bone marrow that can deposit in any of the body’s tissues or organs and cause organs to malfunction. The disease frequently affects the heart, kidneys, liver, spleen, nervous system and gastrointestinal tract. Amyloidosis affects fewer than 3,000 people in the United States annually. The RMCC and the Rocky Mountain Blood and Marrow Transplant Program are referral centers for patients with amyloidosis.

What causes AMYLOIDOSIS?

Although amyloidosis is not cancer, it is very serious and can be disabling or life threatening. It may be associated with some forms of cancer (multiple myeloma, Hodgkin Lymphoma) and familial Mediterranean fever, an intestinal disease. Sometimes it occurs as a result of long-term kidney dialysis treatment. The exact cause of amyloidosis is not known.

Normally blood marrow makes antibodies, proteins that protect against infection and disease. After these antibodies have served their function, they are broken down and recycled in the body. In amyloidosis, cells in the bone marrow produce antibodies that cannot be broken down. These antibodies begin to build up in the bloodstream and ultimately leave the bloodstream and deposit in the tissues or organs as amyloid.

How is AMYLOIDOSIS diagnosed?

Diagnosis of amyloidosis usually begins when routine tests reveal high levels of protein in the urine, followed by a biopsy of samples collected from the abdomen, rectum or bone marrow; however, amyloidosis can cause problems in just about any part of the body. Amyloidosis deposits contain a protein called serum amyloid P (SAP), which is detected when a sample is stained with a dye called Congo Red.

Amyloidosis often has no symptoms in its early stages. Only after the disease begins to interfere with organ function are systems usually detected. Signs of the disease are often varied, making it difficult to diagnosis.

When the kidneys are affected, the first sign of amyloidosis is leaking too much protein in the urine. Symptoms of amyloid accumulation in the kidneys include low urine output, edema (swelling of the hands or feet due to fluid retention), proteinuria, high cholesterol that does not respond to treatment and an aversion to high protein foods.

Amyloid deposits can cause a number of heart problems, including shortness of breath, irregular heartbeat, an enlarged heart, and congestive heart failure. Half of all patients with amyloidosis experience skin conditions all over the body. Protein deposits in the gastrointestinal system can cause abdominal pain, malnutrition, and internal bleeding. Hereditary amyloidosis is a rare type and usually affects the liver, heart or nervous system, resulting into a gradual, progressive degeneration of the nerves. Over time, nerve damage can manifest through carpal tunnel syndrome, constipation, diarrhea, fatigue, inflammation, muscular weakness, numbness, and pins and needles.

Amyloidosis in the respiratory system can result in difficulty in breathing, wheezing, and hoarseness. Both the liver and the spleen may become enlarged due to amyloid deposits. Excessive deposits in the spleen can cause the organ to rupture.

There are three major types of amyloidosis that are very different from each other.

• Primary amyloidosis is a disorder of the plasma cells which begins in the bone marrow. It is the most common type of amyloidosis in the United States. The protein deposits in this type of the disease are made up of immunoglobulin light chain proteins which are deposited in tissues or organs. When enough amyloid protein builds up in one or more organ, the organ’s function is impaired. The heart, kidneys, nervous system, and gastrointestinal tract are most often affected.


• Secondary amyloidosis is caused by a chronic infection or imflammatory disease (such as rheumatoid arthritis, familial Mediterranean fever, osteomyelitis, or granulomatous ileitis). The amyloid deposits that are produced by this type of amyloidosis are made up of a protein called the AA protein.


• Familial (or Hereditary) amyloidosis is the only type of the disease that is inherited. A very rare form of the disease, it is found in nearly every ethnicity. The amyloid deposits of this type are usually made up of the mutated transthyretin protein which is manufactured by the liver.

There are other forms of amyloidosis, including localized amyloid, beta-2 micro globulin amyloid and Alzheimer’s disease. Localized amyloids are associated with hormone proteins, aging, or specific parts of the body—they usually do not have systemic impact. The beta-2 micro globulin amyloid usually affects people who have been on kidney dialysis for a long time. In Alzheimer’s disease, the amyloid protein deposits are found in the brain and are made up of the b-amyloid protein.

What are the treatment options?

There is no cure for amyloidosis, but treatment may help manage the symptoms and limit further production of amyloid protein. Diet and medications are used to manage the disease, and well-balanced nutrition is key to provide the body with adequate energy supply.

Sometimes patients require treatment for complications that arise from amyloidosis. In some cases, depending on the symptoms and affected organs, special diets may be required (such as a low-salt diet if the heart or kidneys are affected). For secondary amyloidosis, the goal of therapy is to treat the underlying condition.(such as taking an anti-inflammatory medication for rheumatoid arthritis).

If no underlying cause is found, a number of choices for treatment are available to address the disease itself.

• Drugs used to treat multiple myeloma and Waldenstrom’s macroglobulemia may be affective when a plasma cell disorder is the suspected cause of amyloidosis. These types of treatments are most often used to treat amyloid patients.


• Anti-inflammatory medication such as colchicine prevents attacks of gouty arthritis and has been used to treat Familial Mediterranean Fever, a hereditary form of amyloidosis.


• Liver transplants may be considered for hereditary amyloidosis.

Researchers are studying other therapies in clinical trials to determine their effectiveness in the treatment of amyloidosis, including peripheral stem cell transplantation and Peripheral stem cell transplantation replaces diseased stem cells (the immature cells used to make blood cells). High-dose chemotherapy is used to kill diseased stem cells, then healthy cells are introduced to replace the destroyed cells. This treatment may slow the progress of amyloidosis. A combination of chemotherapy drugs, the steroid dexamethasone and interferon alpha are being studied for their effectiveness in boosting the immune system and making it easier for the immune system to target abnormal cells.

Therapeutic options for amyloidosis depends on the number of and severity of organs involved, as well as the age and overall health of the patient. Options include:

1. Steriods (prednisone, dexamethasone) with or without an oral chemotherapy.


2. More routine IV chemotherapy such as “VAD”


3. High dose chemotherapy and autologous stem cell transplant.


4. “Immune” modulatory treatments such as alpha interferons or Thalidomide.