AMYLOIDOSIS

Amyloidosis is a disease resulting in the deposition of a protein called amyloid into body tissues and organs. The amyloid protein gets deposited into vital organs until these organs become so infiltrated with the protein that the organ cannot function. Amyloidosis can involve the heart, liver, kidneys, joints, muscles, bloodstream, gastrointestinal tract and nervous system.

The cause of amyloidosis is not understood. Amyloidosis is grouped into three different types, according to the protein that is deposited into the tissues and organs. The three types are called primary amyloidosis, secondary amyloidosis, and hereditary amyloidosis. Primary amyloidosis is a disorder of a particular cell called the plasma cell, and it sometimes occurs with multiple myeloma. Secondary amyloidosis is caused by a chronic infection or a chronic inflammatory disease such as osteomyelitis (infection of the bone), tuberculosis, or rheumatoid arthritis. The third type of amyloidosis is, as its name states, inherited.

Amyloidosis is a rare disease affecting 8 people per 1,000,000 population. Amyloidosis primarily affects men between the ages of 60 and 70 years old. It is not contagious and is not usually detectable until the disease is far advanced.

Amyloidosis may be localized or it may involve the entire body. The diagnosis is usually not made until the disease has involved an organ so much that it no longer functions properly. With involvement of the heart, patients usually complain of shortness of breath, fatigue, leg swelling, and difficulty breathing with exertion. Other symptoms depend on which organ is primarily involved. If the liver is involved, a large liver may be felt in the right upper quadrant of the abdomen. Kidney involvement may be detected by certain blood tests and with an analysis of the urine. With involvement of the gastrointestinal tract, signs and symptoms may include diarrhea, bleeding, abdominal pain, nausea, and vomiting.

Other commonly associated findings include carpal tunnel syndrome, an enlarged tongue, anemia, skin rash, and swelling of the small joints.

If amyloidosis is suspected, a biopsy (obtaining tissue with a needle and looking at it under a microscope) is usually performed. The biopsy can be taken from the rectum, gums, or fat in the abdomen. If a specific organ is known to be involved, the biopsy can be taken from that organ (e.g., liver biopsy if the liver involved; heart muscle biopsy if the heart is involved).

Treatment of amyloidosis depends on which group of amyloidosis is being treated. In the most common form of amyloidosis, primary amyloidosis, your physician may recommend chemotherapy. A common drug regimen is melphalan, prednisone, and colchicine.

In secondary amyloidosis, treatment is directed to the underlying chronic infectious or inflammatory process causing the amyloidosis. In specific diseases leading to secondary amyloidosis, colchicine can be given with good results.

In the hereditary form of amyloidosis, the liver is often involved in addition to the nervous system. In many cases, liver transplantation is recommend.

Treatment is directed to the underlying disease causing the amyloidosis and to the specific organ of involvement.

• Understand that amyloidosis can be either localized (i.e., limited to one organ) or systemic (meaning the disease involves many tissues and organs). The systemic form is progressive and continuous. The localized form can be associated with Alzheimer's disease, or it can involve only one organ, such as the heart.
• Realize that in many forms of amyloidosis there is no cure and the treatment is directed at the organ that has failed from involvement of the amyloid protein.

• Don't miss follow-up appointments. It is important to monitor your blood tests and your clinical status.
• Don't be afraid to ask for second opinions. There are many medical centers that specialize in amyloidosis (see below for more information), and there are many ongoing trials in the treatment of amyloidosis.

• If you are short of breath.
• If you have swelling of the legs.
• If you are bleeding from the stomach or the bowels.
• If you are having abdominal pain.
• If you are having joint swelling or numbness in the hands suggestive of carpal tunnel syndrome.

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