Amyloidosis (am-uh-loi-DO-sis) is a rare disease that occurs when a substance called amyloid builds up in your organs. Amyloid is an abnormal protein that is produced in your bone marrow and can be deposited in any tissue or organ.
Amyloidosis can affect different organs in different people, and there are different types of amyloid. Amyloidosis frequently affects the heart, kidneys, liver, spleen, nervous system and digestive tract. Severe amyloidosis can lead to life-threatening organ failure.
There's no cure for amyloidosis. But treatments can help you manage your symptoms and limit the production of amyloid protein.
In general, amyloidosis is caused by the buildup of an abnormal protein called amyloid. Amyloid is produced in your bone marrow and can be deposited in any tissue or organ. The specific cause of your condition depends on the type of amyloidosis you have.
There are several types of amyloidosis, including:
- AL amyloidosis (immunoglobulin light chain amyloidosis) is the most common type and can affect your heart, kidneys, skin, nerves and liver. Previously known as primary amyloidosis, AL amyloidosis occurs when your bone marrow produces abnormal antibodies that can't be broken down. The antibodies are deposited in your tissues as amyloid, interfering with normal function.
- AA amyloidosis mostly affects your kidneys but occasionally your digestive tract, liver or heart. It was previously known as secondary amyloidosis. It occurs along with chronic infectious or inflammatory diseases, such as rheumatoid arthritis or inflammatory bowel disease.
- Hereditary amyloidosis (familial amyloidosis) is an inherited disorder that often affects the liver, nerves, heart and kidneys. Many different types of gene abnormalities present at birth are associated with an increased risk of amyloid disease. The type and location of an amyloid gene abnormality can affect the risk of certain complications, the age at which symptoms first appear, and the way the disease progresses over time.
- Dialysis-related amyloidosis develops when proteins in blood are deposited in joints and tendons — causing pain, stiffness and fluid in the joints, as well as carpal tunnel syndrome. This type generally affects people on long-term dialysis.
There's no cure for amyloidosis. But treatment can help manage signs and symptoms and limit further production of amyloid protein. Specific treatments depend on the type of amyloidosis and target the source of the amyloid production.
- AL amyloidosis. Many of the same chemotherapy medications that treat multiple myeloma are used in AL amyloidosis to stop the growth of abnormal cells that produce amyloid.
Autologous blood stem cell transplant (ASCT) offers an additional treatment option in some cases. This procedure involves collecting your own stem cells from your blood and storing them for a short time while you have high-dose chemotherapy. The stem cells are then returned to your body via a vein.
ASCT is most appropriate for people whose disease isn't advanced and whose heart isn't greatly affected.
- AA amyloidosis. Treatments target the underlying condition — for example, an anti-inflammatory medication to treat rheumatoid arthritis.
- Hereditary amyloidosis. Liver transplantation may be an option because the protein that causes this form of amyloidosis is made in the liver.
- Dialysis-related amyloidosis. Treatments include changing your mode of dialysis or having a kidney transplant.
You may not experience signs and symptoms of amyloidosis until the condition is advanced. When signs and symptoms are evident, they depend on which of your organs are affected.
Signs and symptoms of amyloidosis may include:
- Swelling of your ankles and legs
- Severe fatigue and weakness
- Shortness of breath
- Numbness, tingling or pain in your hands or feet, especially pain in your wrist (carpal tunnel syndrome)
- Diarrhea, possibly with blood, or constipation
- Unintentional, significant weight loss
- An enlarged tongue
- Skin changes, such as thickening or easy bruising, and purplish patches around the eyes
- An irregular heartbeat
- Difficulty swallowing
- Laboratory tests. Your blood and urine may be analyzed for abnormal protein that can indicate amyloidosis. Depending on your signs and symptoms, you may also have thyroid and liver function tests.
- Biopsy. A tissue sample may be taken and checked for signs of amyloidosis. The biopsy may be taken from your abdominal fat, bone marrow, or an organ such as your liver or kidney. Tissue analysis can help determine the type of amyloid deposit.
- Imaging tests. Images of the organs affected by amyloidosis can help establish the extent of your disease. Echocardiogram may be used to assess the size and functioning of your heart. Other imaging tests can evaluate the extent of amyloidosis in your liver or spleen.
- Pain medication
- Fluid retention medication (diuretic) and a low-salt diet
- Blood-thinning medication
- Medication to control your heart rate
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