Amyloidosis is a group of diseases in which an abnormal protein called amyloid builds up in the organs and tissues. This protein is soluble in its normal form, but it becomes insoluble and starts to build up when it is misfolded (misshaped).The buildup may happen in a single organ (localized) or throughout the body (systemically). Amyloid deposits can affect any organ or tissue.
There are three major types of systemic amyloidosis:
Localized amyloidosis is associated with aging, as the body seems to naturally make amyloid as it ages. Different abnormal proteins or protein fragments may be involved. Two common conditions associated with localized amyloidosis are type 2 diabetes (where protein builds up in the pancreas) and Alzheimer's disease (where protein builds up in the brain). Beta2-microglobulin amyloidosis occurs in people with kidney failure who have been on dialysis for a long time (beta2 -microglobulin is a protein that can build up in the blood and joints as a result of kidney failure).
The signs and symptoms of amyloidosis depend on the location and size of the amyloid deposits.
Amyloidosis may affect any tissue and give rise to:
Symptoms may be vague and can include the following:
There is no certain cause for amyloidosis. The disease arises due to protein misfolding. Hereditary amyloidosis results from genetic changes that cause the body to make abnormal proteins. Abnormal or misfolded proteins deposition affects the function of organs. Once amyloid deposits start, they seem to continue building up in the same locations. The heart, kidneys, nervous system, and GI tract are the most commonly affected.
People with the following profile are at increased risk for developing amyloidosis:
Your health care provider may suspect amyloidosis based on your symptoms, and will perform a physical exam, including blood or urine tests. Other conditions must be excluded. The only way your doctor can definitively diagnose amyloidosis is using a needle to remove a small amount of tissue to test for amyloid (called a biopsy). With hereditary amyloidosis, DNA tests may reveal the genetic change that caused the condition. Special studies of tissue samples may show the structure of amyloid deposits. Depending on the signs and symptoms, your health care provider may use other tests to learn more about your condition, such as which organs are affected and whether your condition is getting worse.
There is no cure for amyloidosis. Treatment focuses on lessening symptoms and reducing production of amyloid.
Those who have hereditary amyloidosis should consider going to genetic counseling to learn about the risks of passing the condition to their children.
Treatment involves decreasing the proteins that can make up amyloid. Doctors may use chemotherapy or stem cell transplantation to treat AL. For AA (secondary amyloidosis), the underlying condition must be treated. A liver transplant may be necessary for hereditary amyloidosis.
Depending on which organs are affected, your health care provider may also ask you to follow a special diet (a low-sodium diet, for example, may help control fluid retention if your heart or kidneys are affected).
To treat secondary (AA) amyloidosis, specific treatments for the underlying infectious or inflammatory condition are used.
To treat primary (AL) amyloidosis, doctors use combinations of prednisone (a corticosteroid) and melphalan (Alkeran, also used to treat some kinds of cancer). Other chemotherapy drugs may be used. Stem cell transplants are also a treatment for AL.
To help manage symptoms, your health care provider may suggest:
Depending on which parts of the body are affected, if you have amyloidosis you may need one of the following procedures:
Dietary choices, supplements, and herbs that reduce inflammation may help prevent worsening amyloidosis. Amyloidosis should never be treated with complementary and alternative therapies alone. Work with a knowledgeable provider and inform all of your health care providers about any medications, herbs, or supplements you are taking.
Reducing salt intake can slow disease progression if the heart or kidneys are affected.
No diet plan or supplements prevent or treat amyloidosis. The following supplements are sometimes used by people with amyloidosis:
Flavonoids are compounds found in some plants that may help fight damage from stress, oxidation, and inflammation. Herbs rich in flavonoids are sometimes used by people with Alzheimer disease and other types of amyloidosis:
Previously, AL was thought to be untreatable and deadly. With current therapy, most patients survive between 2 and 10 years after diagnosis. Survival depends on the extent of heart and kidney involvement.
After diagnosis, your doctor may perform tests on a regular basis to check levels of protein-related substances, the size and placement of amyloid deposits, the development of the disease, and the effects of treatment.
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