Amyloidosis Causes, Diagnosis, Symptoms, and Treatment on MedicineNet.com

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Amyloidosis (cont.)

What are symptoms of amyloidosis?

Symptoms in patients with amyloidosis result from abnormal functioning of the particular organs involved. The heart, kidneys, liver, bowels, skin, nerves, joints, and lungs can be affected. As a result, symptoms are vague and can include fatigue, shortness of breath, weight loss, lack of appetite, numbness, tingling, weakness, enlarged tongue, and swelling. Amyloidosis affecting the kidney leads to "nephrotic syndrome," which is characterized by severe loss of protein in the urine and swelling of the extremities.

How is amyloidosis diagnosed?

The diagnosis of amyloidosis is made by detecting the characteristic amyloid protein in a biopsy specimen of involved tissue (such as mouth, rectum, fat, kidney, heart, or liver). A needle aspiration biopsy of fat just under the skin of the belly (fat pad aspiration), originally developed at Boston University, offers a simple and less invasive method to diagnose systemic amyloidosis. Pathologists can see the protein in the biopsy specimen when it is coated with a special dye, called Congo red stain.

How is amyloidosis treated?

Initial treatment of amyloidosis involves correcting organ failure and treating any underlying illness (such as myeloma, infection, or inflammation). The disease is frequently discovered after significant organ damage has already occurred. Therefore, stabilization of organ function is an initial target of treatment. The most frequent cause of death in systemic amyloidosis is kidney failure.

Sephardic Jews and Turks inherit a genetic disease called Familial Mediterranean Fever, which is associated with amyloidosis and characterized by episodes of "attacks" of fever, joint, and abdominal pains. These attacks can be prevented with the medication colchicine. Armenians and Ashkenazi Jews also have a higher incidence of Familial Mediterranean Fever attacks but do not suffer amyloid deposition disease. Other reports of amyloidosis in families are extremely rare.

Researchers are currently enrolling patients with primary amyloidosis in clinical trials using a cancer chemotherapy medication (melphalan [Alkeran]), in conjunction with bone-marrow stem-cells transplantation. The results have been promising, and this combination treatment is offered to eradicate the amyloidosis in selected patients, provided that the underlying medical condition of the patient is adequate. These aggressive treatment options with stem-cell transplantation and high doses of chemotherapy are a true breakthrough in the treatment of these patients.

Familial amyloidosis can now be cured with liver transplantation. This option requires an accurate diagnosis of the specific protein that causes the disease.

Amyloidosis At A Glance

Amyloidosis is a disorder resulting from abnormal protein (amyloid) deposits in body tissues.
Amyloidosis can occur as an isolated disease or as a result of another illness.
Symptoms in patients with amyloidosis result from abnormal functioning of the particular organs involved.
Diagnosis of amyloidosis is made with a biopsy of involved tissue.
Treatment options for amyloidosis depends on the type of amyloidosis and involves correcting organ failure and treating any underlying conditions.

For more information about amyloidosis, please visit the following site: http://www.bu.edu/amyloid/ (Boston Medical Center).

References: Mayo Clinic Proc. 2006;81(7):880-888.

Mayo Clinic Proc. 2006;81(7):874-876.

Last Editorial Review: 2/1/2008