Amyloidosis is a group of rare and potentially fatal diseases characterized by deposits of abnormal protein called amyloid which accumulate in one or more organs. Amyloidosis frequently affects the heart, kidneys, liver, spleen, nervous system and gastrointestinal tract.


The exact cause of amyloidosis is unknown, there's no recognized link between amyloidosis and stress or occupation. The majority of people who get amyloidosis are older than 40. Men are more likely than are women to develop the disorder. People may be at increased risk if they have a chronic infectious or inflammatory disease.

There's no cure for amyloidosis. However, therapies are available to help to manage the symptoms and limit the production of amyloid protein.


Signs and symptoms of amyloidosis depend on the organs affected. Signs and symptoms may include: swelling of ankles and legs, weakness, weight loss, shortness of breath, numbness or tingling in your hands or feet, diarrhea, severe fatigue, enlarged tongue (macroglossia), skin changes, irregular heartbeat, and difficulty swallowing. The wide range of signs and symptoms often makes amyloidosis difficult to diagnose. Some patients may have no symptoms.


There are three major types of amyloidosis :


  • Primary amyloidosis. It is the most common type of amyloidosis in the United States, with estimates of up to 2000 cases diagnosed each year. This type of amyloidosis primarily affects heart, kidneys, tongue, nervous system and gastrointestinal tract. Primary amyloidosis is a plasma cell disorder, which originates in the bone marrow. The deposits in this type are made up of immunoglobulin light chain proteins that may be deposited in any bodily tissues or organs when they leave the bloodstream, interfering with normal function. Primary amyloidosis isn't associated with other diseases except for multiple myeloma, with 10 to15 percent of people who have multiple myeloma also develop amyloidosis. Primary amyloidosis is usually treated with chemotherapy.
  • Secondery amyloidosis. This type occurs in association with chronic infection or inflammatory disease such as tuberculosis, rheumatoid arthritis, familial Mediterranean fever, osteomyelitis, or granulomatous ileitis. It primarily affects kidneys, spleen, liver and lymph nodes, though other organs may be involved. The deposits in this type of the disease are made up of a protein called the AA protein. Medical or surgical treatment of the underlying chronic infection or inflammatory disease can slow or stop the progression of this type of amyloid.
  • Hereditary amyloidosis. It is the only type of amyloidosis that is inherited. It is a rare form of the disease which is found in families of nearly every ethnic background. This type often affects the nerves, heart and kidneys. The deposits in this type are most commonly made up of the transthyretin protein which is manufactured in the liver. It is a mutation of such a protein that causes this form of amyloidosis.