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: Primary amyloidosis—found in the heart, lungs, skin, tongue, thyroid gland, intestines, liver, kidneys, and blood vesselsSecondary amyloidosis—found in the spleen, liver, kidneys, adrenal glands, and lymph nodesHereditary amyloidosis—found in the nerves, heart, blood vessels, and kidneys
The causes of amyloidosis vary in its different forms:
Primary amyloidosis—caused by the deposit of antibody fragments; associated with bone marrow disorders such as
multiple myelomaSecondary amyloidosis—develops in response to chronic infection or inflammatory diseaseHereditary or Familial amyloidosis—caused by mutations of amyloid in the blood
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:
Underlying chronic inflammatory or infectious diseases, such as:
osteomyelitisHistory of Mediterranean feverHemodialysis
—removal of blood from the arteries, cleansing it, adding nutrients, and returning it to the veins
Family history of amyloidosisFamily history of Mediterranean fever
Symptoms for all forms of amyloidosis include: FatigueWeight loss
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:
kidney failureSkin—easy bruising, purplish skin around the eyes caused by small blood vessels leaking into the skinLymphatic system—enlarged lymph nodesEndocrine system—enlarged thyroid gland
Swallowing difficultiesEnlarged tongueDiarrheaClay colored stools
Numbness, tingling, weakness in hands and feetSwelling of nerves in the wristWeak hand grip
Cardiovascular system—Irregular heart beat
Difficulty breathingShortness of breath
Edema in Lower Legs
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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: Blood testsUrine testsBiopsy
Images may be taken of your bodily structures. This can be done with: Electrocardiogram (ECG)EchocardiogramAbdominal ultrasoundMRI
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:
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:
Primary amyloidosis (Amyloid light chain (AL) amyloidosis)Secondary amyloidosis—from aggressive treatment of an underlying inflammatory process or diseaseHereditary amyloidodis
Stem cells are immature cells. They are
to replace damaged or diseased cells. This process is used in:
Primary amyloidodis—Your own immature blood cells are transfused. This process is called autologous stem cell transplant. Medications, like chemotherapy drugs, may be used with this treatment.Hereditary amyloidodis—Cells are transplanted from a donor body
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: Medications—such as diuretics to rid your body of excess fluid and steroids to relieve inflammationDietary changes—The diet chosen will depend on the organ affected and related complicationsHospice—Treatment to relieve pain and suffering from progressively fatal complications
There is no known way to prevent amyloidosis.
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http://www.ebscohost.com/dynamed. Updated April 2, 2014. Accessed August 7, 2015.
Amyloidosis. Cleveland Clinic website. Available at:
. Accessed August 19, 2014.
Merlini G, Bellotti V. Molecular mechanisms of amyloidosis.
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National Organization for Rare Disorders. A physician's guide to amyloidosis. National Organization for Rare Disorders website. Available at:
https://rarediseases.org/rare-diseases/amyloidosis/. 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 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.
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