Amyloidosis is a group of rare diseases. It involves deposits of a protein called amyloid. These proteins build up in body tissues and organs. There are three major forms:
The causes of amyloidosis vary in its different forms:
Men older than 40 are at increased risk for primary and secondary amyloidosis. People who are of Portuguese, Swedish, or Japanese descent are at increased risk for hereditary amyloidosis.
Factors that may increase your risk of getting amyloidosis include:
Symptoms for all forms of amyloidosis include:
The extent of the disease and the type of organ affected determine the symptoms. Symptoms can vary from mild to severe. The following is a list of additional symptoms as they relate to specific body systems:
You will be asked about your symptoms and medical history. A physical exam will be done. The doctor may refer you to specialists.
Your bodily fluids and tissues may be tested. This can be done with:
Images may be taken of your bodily structures. This can be done with:
Your nerves may be examined. This can be done with nerve conduction velocity.
There is no cure for any form of this disease. The main goal is to treat an underlying condition. Treatment to decrease or control symptoms and complications has been only slightly successful. Talk with your doctor about the best plan for you. Treatment options include:
Chemotherapy is the use of a series of drugs. It may be given by pill, injection, or via a catheter. In this case, it is used to help improve symptoms and slow the progression of the disease by interrupting the growth of the abnormal cells that produce amyloid protein. It is used in:
Stem cells are immature cells. They are transplanted to replace damaged or diseased cells. This process is used in:
This is the removal of a diseased organ and transfer of a healthy donor organ to the recipient. In these cases, it is the liver or kidney. It may be done in all major forms of amyloidosis. In the case of hereditary amyloidosis, it may stop the progression of the disease.
This is the removal of the spleen. This can decrease the production of amyloid. It may be done for primary and secondary amyloidodis.
Treatments for all forms of amyloidosis include:
Office of Rare Diseases Research—National Institutes of Health
Canadian Organization for Rare Disorders
The Kidney Foundation of Canada
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Amyloidosis. Cleveland Clinic website. Available at: http://my.clevelandclinic.org/disorders/diseases/amyloidosis/can_overview.aspx . Accessed August 19, 2014.
Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med. 2003; 349:583.
National Organization for Rare Disorders. A physician's guide to amyloidosis. National Organization for Rare Disorders website. Available at: http://www.rarediseases.org/docs/Amyloidosis_10_22.pdf. Published 2010. Accessed August 19, 2014.
Westermark P, Benson MD, Buxbaum JN, et al. Amyloid: toward terminology clarification. Report from the Nomenclature Committee of the International Society of Amyloidosis. Amyloid 2005; 12:1.
What is amyloidosis? Boston University website. Available at: http://www.bu.edu/amyloid/about/what/. Accessed August 19, 2014.
Last reviewed August 2014 by Igor Puzanov, MD; Michael Woods, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.