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Diagnosis

Blood and urine tests can reveal the presence of amyloid protein, but tissue or bone-marrow biopsy is necessary to positively diagnose amyloidosis. Once the diagnosis has been confirmed, additional laboratory tests and imaging procedures are performed to determine:

• which type of amyloid protein is involved
• which organ(s) or system(s) have been affected
• how far the disease has progressed

Treatment

The goal of treatment is to slow down or stop production of amyloid protein, eliminate existing amyloid deposits, alleviate underlying disorders (that give rise to secondary amyloidosis), and relieve symptoms caused by heart or kidney damage. Specialists in cardiology, hematology (the study of blood and the tissues that form it), nephrology (the study of kidney function and abnormalities), neurology (the study of the nervous system), and rheumatology (the study of disorders characterized by inflammation or degeneration of connective tissue) work together to assess a patient's medical status and evaluate the effects of amyloidosis on every part of the body.
Colchicine (Colebenemid, Probeneaid), prednisone, (Prodium), and other anti-inflammatory drugs can slow or stop disease progression. Bone-marrow and stem-cell transplants can enable patients to tolerate higher and more effective doses of melphalan (Alkeran) and other chemotherapy drugs prescribed to combat this non-malignant disease. Surgery can relieve nerve pressure and may be performed to correct other symptom-producing conditions. Localized amyloid deposits can also be removed surgically. Dialysis or kidney transplantation can lengthen and improve the quality of life for patients whose amyloidosis results in kidney failure. Heart transplants are rarely performed.

Supportive measures

Although no link has been established between diet and development of amyloid proteins, a patient whose heart or kidneys have been affected by the disease may be advised to use a diuretic or follow a low-salt diet.

Prognosis

Most cases of amyloidosis are diagnosed after the disease has reached an advanced stage. The course of each patient's illness is unique but death, usually a result of heart disease or kidney failure, generally occurs within a few years. Amyloidosis associated by multiple myeloma usually has a poor prognosis. Most patients with both diseases die within one to two years.

Prevention

Genetic counseling may be helpful for patients with hereditary amyloidosis and their families. Use of cholchicine in patients with familial Mediterranean fever has successfully prevented amyloidosis.