About Amyloidosis
What Is Amiloidosis?
Amyloidosis is a group of diseases in which protein is deposited in specific organs (localized amyloidosis) or throughout the body (systemic amyloidosis). Amyloidosis may be either primary (with no known cause) or secondary (caused by another disease, including some types of cancer). Generally, primary amyloidosis affects the nerves, skin, tongue, joints, heart, and liver; secondary amyloidosis often affects the spleen, kidneys, liver, and adrenal glands.
There are three types of amyloidosis:
AL AMYLOIDOSIS. This is the most common type of amyloidosis in the United States. The amyloid proteins that accumulate in the tissues in this condition are known as light (L) chains. It is not usually associated with another underlying condition, although it is sometimes associated with multiple myeloma.
AA AMYLOIDOSIS. In this condition, the amyloid protein that accumulates in the tissues is known as the A protein. AA amyloidosis is associated with chronic diseases, such as diabetes, tuberculosis, rheumatoid arthritis, or inflammatory bowel disease. It may also accompany aging. The spleen, liver, kidneys, adrenal glands, and lymph nodes may be involved.
HEREDITARY AMYLOIDOSIS (ATTR). Hereditary amyloidosis is a specific type of amyloidosis that can be passed down from generation to generation in a family. It may cause peripheral sensory and motor neuropathy (problems with the central nervous system), carpal tunnel syndrome, and eye abnormalities. The most common subtypes involve the transthyretin (TTR) protein. Hereditary amyloidosis is rare.
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Risk Factors
There is no known cause of amyloidosis. However, research has shown that people with certain risk factors are more likely than others to develop the disease. Risk factors include:
- AGE AND GENDER: Growing older increases the chance of developing amyloidosis. For primary amyloidosis, most people diagnosed are over 40 years of age. Amyloidosis is more common in men.
- OTHER DISEASES: Secondary amyloidosis is associated with the presence of a chronic disease including multiple myeloma.
- FAMILY HISTORY: A small number of amyloidosis patients have a genetic mutation that is passed down from their family members.
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Symptoms
People with amyloidosis may or may not experience any symptoms. Many of the symptoms are determined by the organ or system that is affected by the protein buildup. Also, many of these symptoms may indicate another condition so it is important to see your doctor if you are experiencing any of the following:
- GENERAL SYMPTOMS: Fatigue, unexplained weight loss, anemia (low red blood cell counts), week hand grip, changes in the skin or clay-colored stools. Numbness, weakness and tingling of the arms and legs.
- KIDNEYS: Protein buildup in the kidneys will lessen the kidney's ability to filter waste and break down proteins.
- LIVER: Amyloidosis can cause the liver to increase in size and prevent it from functioning normally.
- HEART: Irregular heart beat, an enlarged heart, and poor heart function.
- GASTROINTESTINAL TRACT: Problems with digestion and absorption of food, bleeding, obstructions, thickened tongue, and gastrointestinal reflux disease (GERD).
- THYROID GLAND: Goiter which is the enlargement of the thyroid gland.
- LUNGS: Problems breathing including shortness of breath.
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Diagnosis
If amyloidosis is suspected, many tests may be used for diagnosis and to determine which parts of the body are affected. A biopsy is the only way to make a definitive diagnosis.
Tests used may include an EKG or ECG to evaluate the heart, blood tests, urine tests, bone marrow test, ultrasound, and a biopsy (removing a small amount of tissue from the body and viewing it under a microscope).
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Common Treatment Options
The treatment of amyloidosis is based on the diagnosis and the location of the disease in the body. Your doctor will work with you to determine the best course of treatment for your specific disease.
The most common treatment method is medication and chemotherapy. Medications including steroids may be used to control many of the problems associated with amyloidisis. Chemotherapy, using drugs to kill abnormal cells in the body, may be used to kill the abnormal plasma cells.
Other treatment methods may include immunotherapy, surgery, dietary therapy and stem cell transplantation/bone marrow transplantation.
Possible treatment options include:
PRIMARY AL AMYLOIDOSIS
• Stem Cell Transplant
• IV Chemotherapy
• Velcade - a proteasome inhibitor
• Revlimid - An immunomodulatory drug
SECONDARY OR RECACTIVE AA AMYLOIDOSIS
Treatment depends on the underlying disease. It is important to control the chronic infection or inflammatory disease which is responsible for the amyloid. Medical or surgical treatment may be used to accomplish this. In addition, colchicine is sometimes prescribed.
HEREDITARY AMYLOIDOSIS
The major therapy is liver transplantation. Since the transthyretin protein which causes familial amyloidosis is made in the liver, replacing this organ removes the source of mutant protein production. A new liver will make only normal transthyretin. At present, medical researchers are evaluating whether or not previously formed amyloid TTR deposits will disappear after liver transplantation.
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