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 usually 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.
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
- Feeling full quickly when eating, and 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
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:
- Immunoglobulin light chain (AL) amyloidosis, the most common type, can affect your heart, kidneys, skin, nerves and liver. It was previously known as primary amyloidosis. It 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 (familial) amyloidosis is an inherited disorder that often affects the liver, nerves, heart and kidneys. One type is caused by a certain amyloid (transthyretin amyloid) that can affect the nervous system or the heart. African-Americans have a greater risk of this type than do Caucasians. It is thought to be a significant cause of heart failure in African-American men.
Treatment for other types of amyloidosis
- AA amyloidosis. The underlying condition is treated with medication — 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. Options include changing your mode of dialysis or having a kidney transplant.
Pace yourself. If you feel short of breath, take a break. You'll need to avoid strenuous activities, but you may be able to continue normal daily activities, such as going to work. Talk to your doctor about an appropriate level of activity for you. Follow a balanced diet. Good nutrition is important to provide your body with adequate energy. Follow a low-salt diet if your doctor recommends it.