Blood Disorders

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Amyloidosis

What is amyloidosis

Amyloids are abnormal proteins usually produced in your bone marrow that can be deposited in any tissue or organ. Amyloidosis is a rare and potentially fatal disease that occurs when these proteins build up. It can affect different organs as there are many types of amyloid, but it frequently affects the heart, kidneys, liver, spleen, nervous system, and gastrointestinal tract. The exact cause of is unknown, and there's no cure. However, therapies are available to help you manage your symptoms and limit the production of amyloid proteins.

Symptoms and diagnosis

This disease is difficult to diagnose as you may or may not have any symptoms. Symptoms can include swelling in the ankles and legs, weakness, weight loss, shortness of breath, numbness or tingling in the hands or feet, diarrhea, severe fatigue, and enlarged tongue (macroglossia), difficulty swallowing, irregular heart beat, and skin changes. 

The diagnosis may be suspected by finding abnormal proteins in the blood called monoclonal proteins, but the diagnosis requires biopsy and identification of the abnormal protein in an effected organ (e.g. skin, bone marrow, kidney, rectum, or heart).

Types of amyloidosis

Primary amyloidosis is this most common form and affects your heart, kidneys, tongue, nerves, and intestines. It isn’t associated with other diseases, except for multiple myeloma, in a minority of cases. The cause is unknown, but it begins in your bone marrow, where red and white blood cells, platelets, and antibodies are made. After antibodies serve their function, your body breaks them down and recycles them naturally. Amyloidosis occurs when cells in the bone marrow produce antibodies that can't be broken down. These antibodies then build up in your bloodstream and can deposit in your tissues as amyloid, interfering with normal function.

Secondary amyloidosis occurs in association with chronic infectious or inflammatory diseases, such as tuberculosis, rheumatoid arthritis, or osteomyelitis. It primarily affects your kidneys, spleen, liver, and lymph nodes, though other organs may be involved. Treatment of the underlying disease may help stop this form of amyloidosis.

Hereditary amyloidosis often affects the nerves, heart, and kidneys.

Treatment of Amyloidosis

No good treatments are available for secondary and hereditary amyloidosis. Primary amyloidosis is treated with drugs used to treat multiple myeloma. In some cases, autologous stem cell transplantation is used. Seattle Cancer Care Alliance has experience in treating primary amylodosis with stem cell transplantation

More information

For more information about amyloidosis, the following may be helpful: