Amyloidosis is a group of rare diseases characterized by deposits of a protein called amyloid which accumulate in body tissues and organs, impairing normal function.
There are three major forms:
Primary amyloidosis—found in the heart, lungs, skin, tongue, thyroid gland, intestines, liver, kidneys, and blood vessels
Secondary amyloidosis—found in the spleen, liver, kidneys, adrenal glands, and lymph nodes
Hereditary amyloidosis—found in the nerves, heart, blood vessels, and kidneys
These conditions are serious and require care from your doctor.
Causes
The causes of amyloidosis vary in its different forms.
Primary amyloidosis
The condition is caused by the deposition of antibody fragments, and is associated with bone marrow disorders such as
multiple myeloma
(cancer of the plasma cells), and related disorders.
Secondary amyloidosis—develops in response to chronic infection or inflammatory disease.
Hereditary amyloidosis—caused by mutations of specific proteins (amyloid) in the blood
Risk Factors
A risk factor is something that increases your chance of getting a disease or condition.
Symptoms can be none to several and mild to severe, depending on the extent of the disease and the type of organ affected. The following is a list of additional symptoms as they relate to specific body systems:
Amyloidosis can be difficult to recognize because it produces so many complications. Underlying conditions may be fatal before amyloidosis is either suspected or diagnosed.
Your doctor will ask about your symptoms and medical history and perform a physical exam. Depending on your symptoms and his findings, the doctor may refer you to see one or many different specialists.
Tests may include the following:
Biopsy
—removes a small sample of tissue or organ, either by needle or incision.
Electrocardiogram (ECG)
—measures the electrical activity of the heart to diagnose heart disease
Echocardiogram
—creates a detailed, moving image of your heart using high frequency sound waves
Kidney function evaluation—determines if there is excess protein in the urine
Urinalysis—chemically and microscopically examines urine for disease
Serum creatinine—blood test to measure kidney function and muscle mass
Blood urea nitrogen (BUN) levels
—blood test to measure kidney function
Abdominal ultrasound
—a test that uses sound waves to examine internal organs and blood vessels for abnormalities
Nerve conduction velocity—evaluates the condition of the nerves
Treatment
There is no cure for any form of amyloidosis. The main consideration is to treat an underlying condition. Treatment to decrease or control symptoms and complications of amyloidosis has been only modestly successful. Talk with your doctor about the best treatment plan for you. Treatment options include:
Autologous stem cell transplantation—the process of transfusing one’s own immature blood cells to replace diseased or damaged cells. Drugs which are often used include:
Melphalan
Prednisone
Thalidomide
Colchicine
Organ transplantation—removal of a diseased organ (liver or kidney) and transfer of a healthy donor organ (liver or kidney) to the recipient.
Splenectomy
—removal of the spleen to decrease the production of amyloid.
Secondary Amyloidosis
Treatment may include:
Chemotherapy—Aggressive treatment of the underlying inflammatory process or disease to improve symptoms and/or slow progression of the disease; drugs which are often used include:
Melphalan
Prednisone
Thalidomide
Colchicine
Organ transplantation—removal of a diseased organ (liver or kidney) and transfer of a healthy donor organ (liver or kidney) to the recipient.
Splenectomy
—removal of the spleen to decrease the production of amyloid.
Hereditary Amyloidosis
Treatment may include:
Chemotherapy—the use of chemicals to treat or control symptoms and/or slow progression of the disease using colchicine.
Organ transplantation—removal of a diseased organ (liver or kidney) and transfer of a healthy donor organ (liver or kidney) to the recipient.
Stem cell transplantation—the process of transferring cells from a donor body to the recipient (patient).
The Following Are Broad Treatments Used in All Forms of Amyloidosis
Medications
Diuretics—to rid your body of excess fluid
Steroids—to relieve inflammatory process
Lifestyle
Special diets depending on the organ(s) affected and resultant complications.
Hospice
Treatment to relieve pain and suffering from progressively fatal complications.
Prevention
There is no known prevention for amyloidosis.
RESOURCES:
Amyloidosis Support Groups http://www.amyloidosissupport.com/
Amyloidosis Support Network http://www.amyloidosis.org
National Institute of Health http://www.nlm.nih.gov/
CANADIAN RESOURCES:
BC Health Guide, British Columbia Ministry of Health http://www.bchealthguide.org
The Kidney Foundation of Canada http://www.kidney.ab.ca
References:
Amyloidosis. Amyloidosis Support Network. Available at:
http://www.amyloidosis.org/
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Amyloidosis. MedlinePlus Medical Encyclopedia, National Institute of Health & National Library of Medicine. Available at:
http://www.nlm.nih.gov/medlineplus/ency/article/000533.htm
. Accessed September 13, 2005.
Dambro MR.
Griffith's 5-Minute Clinical Consult.
2001 ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2001.
Diseases and conditions A-Z. Mayoclinic.com website. Available at:
http://www.mayoclinic.com/findinformation/diseasesandconditions/index.cfm
. Accessed September 15, 2005.
Merlini, G, Bellotti, V. Molecular mechanisms of amyloidosis.
N Engl J Med.
2003; 349:583.
Special subjects “amyloidosis.” Merck Manual, 2nd Home Online Edition website. Available at:
http://www.mercksource.com/pp/us/cns/cns_merckmanual_frameset.jsp
. Accessed September 14, 2005.
Special subjects “amyloidosis.” Merck Manual, 17th Edition Centennial Online Edition (1999) website. Available at:
http://80-online-statrefcom.ezproxy.library.tufts.edu/Document.aspx?DocId=87&FxId=21&SessionId=5353B6FTZGIRXSNW&Scroll=1&Index=0
. Accessed September 13, 2005.
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.
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.
