August 27, 2016
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Amyloidosis (cont.)

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What tests do doctors use to diagnose amyloidosis?

Blood tests and urine tests can be used to look for abnormal proteins that could indicate amyloidosis.

The definite 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 (physician specializing in examining tissues) can see the protein in the biopsy specimen when it is coated with a special dye, called Congo red stain.

Once the diagnosis is made, tests of the involved organs can help establish the extent of the disease.

What is the treatment for amyloidosis?

The treatment of amyloidosis depends on the type of amyloidosis involved. 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.

Treatment includes chemotherapy agents usually used for certain cancers and dexamethasone for its anti-inflammatory actions.

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 (Colcrys). 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.

Patients with primary amyloidosis who have reasonable underlying health can be treated with a cancer chemotherapy medication (melphalan [Alkeran]) in conjunction with bone-marrow stem-cell transplantation. These treatments attack the abnormal plasma cells in the bone marrow that are causing the primary amyloidosis. 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 patients with this form of amyloidosis.

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

Renal amyloidosis can be treated by kidney transplantation (renal transplantation).

Medically Reviewed by a Doctor on 5/19/2016



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