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By Alan S. Cohen, MD

Amyloidosis is a rare disease in which a protein called amyloid accumulates in various tissues and organs, impairing normal function.

  • The symptoms and severity of amyloidosis depend on which organs are affected.

  • Diagnosis is made by examining a small piece of tissue under a microscope.

  • Drugs can rarely reduce symptoms.

  • Organ transplantation can treat some types of amyloidosis.

Amyloidosis causes few or no symptoms in some people but causes severe symptoms and fatal complications in other people. The severity of the disease depends on which organs are affected by amyloid deposits. Amyloidosis is twice as common among men as women and is more common among older people.

Many forms of amyloidosis exist, and the disease can be classified into four groups: primary amyloidosis, secondary amyloidosis, hereditary amyloidosis, and amyloidosis associated with normal aging.

Primary amyloidosis (light chain amyloidosis) occurs with abnormalities of plasma cells, and some people with primary amyloidosis also have multiple myeloma (cancer of the plasma cells—see Multiple Myeloma). Typical sites of amyloid buildup in primary amyloidosis are the heart, lungs, skin, tongue, thyroid gland, intestines, liver, kidneys, and blood vessels.

Secondary amyloidosis may develop in response to various diseases that cause persistent infection or inflammation (such as tuberculosis, rheumatoid arthritis, and familial Mediterranean fever) and certain types of cancer. Typical sites of amyloid buildup in secondary amyloidosis are the spleen, liver, kidneys, adrenal glands, and lymph nodes.

Hereditary amyloidosis has been noted in some families, particularly those from Portugal, Sweden, and Japan. The amyloid-producing defect occurs because of mutations in specific proteins in the blood. Typical sites for amyloid buildup in hereditary amyloidosis are the nerves, heart, blood vessels, and kidneys.

Amyloidosis associated with normal aging usually affects the heart. What causes amyloid to build up in the heart, other than age, is usually not known. Amyloid also accumulates in the brain of people with Alzheimer’s disease and is thought to play a role in causing Alzheimer’s disease.

Effects of Amyloid Buildup

Organ or System Affected

Possible Consequences

Blood and blood vessels

Easy bruising


Alzheimer’s disease

Digestive system

Enlarged tongue

Intestinal obstruction

Poor nutrient absorption


Abnormal heart rhythms (arrhythmias)

Enlarged heart

Heart failure


Fluid accumulation in tissues, causing swelling (edema)

Kidney failure


Enlarged liver


Difficulty breathing

Lymph nodes

Enlarged lymph nodes

Musculoskeletal system

Carpal tunnel syndrome

Nervous system







Thyroid gland

Enlarged thyroid gland

Symptoms and Diagnosis

The accumulation of large amounts of amyloid can disturb the normal functioning of many organs. Many people have few symptoms, whereas others develop severe, life-threatening disease. Common symptoms are fatigue and weight loss. Other symptoms of amyloidosis depend on where the amyloid builds up.

Amyloidosis is sometimes difficult for doctors to recognize because it causes so many different problems. However, doctors may suspect amyloidosis when

  • Several organs fail

  • Fluid accumulates in the tissues, causing swelling (edema)

  • Unexplained bleeding occurs, especially in the skin

The hereditary form is suspected when an inherited peripheral nerve disorder is discovered in a family.

The diagnosis is generally made by testing a small amount of abdominal fat obtained through a needle inserted near the navel. Alternatively, doctors can do a biopsy by taking a sample of tissue from the skin, rectum, gums, kidney, or liver and examining it under a microscope with the use of special stains.

Prognosis and Treatment

There is no cure for amyloidosis. However, in secondary amyloidosis, treating the underlying disease usually slows or reverses the amyloidosis. Primary amyloidosis with or without multiple myeloma has a bleak prognosis. Most people who have both diseases die within 1 to 2 years. People who have amyloidosis and who develop heart failure have a poor prognosis as well.

Treatment to decrease or control symptoms and complications of amyloidosis has been only modestly successful for most people. Chemotherapy (prednisone and melphalan, sometimes combined with colchicine) and stem cell transplantation offer relief to some people. Colchicine alone may help relieve amyloidosis that is triggered by familial Mediterranean fever. Accumulations of amyloid in a specific area of the body can sometimes be removed surgically.

Organ transplants (for example, a kidney or the heart) have extended the lives of a small number of people with organ failure due to amyloidosis. However, the disease usually continues to progress, and eventually the transplanted organ accumulates amyloid. The exception is liver transplantation (see Liver Transplantation), which usually stops progression of the hereditary form of amyloidosis.

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