Amyloidosis - Cancer Institute Overview

(Also Called 'Amyloid Heart Disease')

Blood and Lymph Node Cancers

Cleveland Clinic Taussig Cancer Center hematologists and medical oncologists provide diagnosis and treatment for patients with hematologic malignancies, including chronic and acute leukemia, Hodgkin’s and non-Hodgkin’s lymphoma, and multiple myeloma, and lymph node cancer, as well as amyloidosis. They rely on the diagnostic expertise of Cleveland Clinic pathologists who specialize in such areas as the lymphomas.

What is Amyloidosis?

Amyloidosis is not a form of lymph node cancer, although it may occur in some people who have multiple myeloma.  Multiple myeloma is part of a spectrum of diseases called plasma cell dyscrasia. Plasma cells are responsible for forming antibodies against bacteria and foreign proteins. For reasons that are unclear, these cells lose their ability to respond to controlling signals from immune cells. Plasma cells then divide and form abnormal proteins that damage the bone, bone marrow or other organs of the body.

There are different forms of amyloidosis, distinguished by the type of protein fibrils (small fibers) that are deposited. The forms of amyloidosis include:

Primary amyloidosis

Primary amyloidosis occurs independently of other disease (no specific cause or disease is related to the abnormal protein deposits). Primary amyloidosis typically affects the skin, tongue, thyroid gland, intestines, liver, kidneys, spleen, lung and heart.

Secondary amyloidosis

Secondary amyloidosis is the most common form of amyloidosis which usually occurs with another long-term illness, such as multiple myeloma (most common), tuberculosis, osteomyelitis, rheumatoid arthritis or Crohn's disease. Secondary amyloidosis typically affects the kidneys, liver, spleen and sometimes the lymph nodes and vascular system.

Hemodialysis-associated amyloidosis

Hemodialysis-associated amyloidosis occurs in people who have had long-term kidney dialysis. It is often characterized by bone lesions and chronic arthritis.

Familial (inherited) amyloidosis

Familial (inherited) amyloidosis is present in a series of genetically transmitted diseases that usually affect the kidney, heart, skin and other areas of the body.

Senile amyloidosis

Senile amyloidosis oOccurs secondary to old age. Senile amyloidosis may affect the heart, pancreas and sometimes the brain.

In addition to the systemic forms of amyloidosis listed above, the amyloid deposits can be localized. Localized amyloidosis may be associated with endocrine tumors, normal aging, adult onset diabetes and Alzheimer's disease.

What Causes Amyloidosis?

The cause of amyloidosis is unknown. Amyloidosis is thought to result from many factors.

Amyloidosis is a rare disease. About two-thirds of patients with amyloidosis have primary (where no specific cause or disease is related to the abnormal protein deposits), less than 5% have secondary (associated with another chronic disease, often in multiple myeloma), less than 5% familial (inherited) and less than 5% have senile (occurring secondary to old age) amyloidosis. In patients with primary amyloidosis, 95% are over the age of 40 and 66% are men.

Symptoms

  • Weakness or fatigue 
  • Weight loss 
  • Heart damage (congestive heart failure)
  • Shortness of breath
  • Swelling of the feet and legs
  • Chest pains
  • Irregular heart rhythm
  • Lightheadedness (due to lowering of blood pressure during sudden position changes) 
  • Abnormal sensations of the arms, feet, or legs

Symptoms related to autonomic neuropathy (e.g. gastrointestinal symptoms such as bloating, diarrhea, etc...) especially in the neuropathic hereditary familial amyloidosis.

Large Amyloid deposits may produce bone damage and cause bone fractures.

How is Amyloidosis Diagnosed?

The diagnosis of amyloidosis is often delayed either because the cause is unclear (as in primary amyloidosis) or the signs and symptoms of the underlying chronic disease mask the signs of amyloid deposits (as in secondary amyloidosis).

Upon physical examination, amyloidosis should be suspected in the presence of any combination of the signs and symptoms listed to the left or when there is:

  • Slow onset of unexplained protein in the urine
  • Unexplained kidney failure
  • Enlarged liver or spleen
  • Malabsorption of food
  • Nerve damage
  • Unexplained congestive heart failure

The following tests are performed to confirm amyloidosis:

Blood Tests

The results of blood tests can also indicate amyloidosis.  A high platelet count occurs in 5 to 10% of people with amyloidosis and may be a clue to the diagnosis.  Levels of serum alkaline phosphatase (an enzyme in the bone and the liver) may increase and occurs in about 25% of the patients with amyloidosis.  A low hemoglobin level (anemia) is not a prominent feature of amyloidosis but may occur due to kidney dysfunction, multiple myeloma or stomach bleeding. Low blood protein levels could occur because of a loss of protein through the urine and could result in increased cholesterol and triglyceride levels.

Electrocardiogram

An electrocardiogram (EKG) is a test that detects and records the flow of electrical impulses throughout the heart. When an EKG is performed on a person with amyloidosis, low voltage and false signs of heart attack may appear.

Biopsy

A biopsy, which can detect the presence of amyloids in tissues or organs, is necessary to confirm the diagnosis. The most common biopsy sites include abdominal fat, rectum, gums and bone marrow. Biopsies of the kidneys, nerves, heart or liver are sometimes performed to confirm the diagnosis.

Treatment

There is no known cure for amyloidosis, and no treatment has been found effective in reversing the deposits of amyloids. However, there are treatments that can slow the progression of amyloidosis and reduce its harmful effects on certain organs.

Because each type of amyloidosis is different, the treatment will be tailored to each individual. The treatment will depend on several factors, including the organs or tissues that are affected; the severity of symptoms; and the person's age, overall health and medical history.

In secondary amyloidosis, treatment is aimed at relieving the underlying disease. People with renal amyloidosis may be candidates for kidney dialysis or transplantation. Localized amyloid tumors can be surgically removed, generally without recurrence.

Treatment with chemotherapy that is known to be effective against multiple myeloma and other related diseases has been attempted. More recently, therapy with high dose steroids and alpha-interferons appear to be showing promising results and is currently under investigation. Treatment with colchicine (a drug used to treat some forms of arthritis and cancer) has shown to slow the progression of amyloidosis.

Preliminary research shows that high dose chemotherapy followed by bone marrow transplantation may be an effective treatment. However, further investigation is needed.


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