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 build up of amyloid can make it difficult for the organ or tissue to function. These conditions are serious. They require care from your doctor.
The causes of amyloidosis vary in its different forms.
Primary amyloidosis—caused by the deposit of antibody fragments; associated with bone marrow disorders (eg,
Secondary amyloidosis—develops in response to chronic infection or inflammatory diseaseHereditary amyloidosis—caused by mutations of amyloid in the blood
The following factors increase your chance of developing amyloidosis:
Sex—men are at greater riskAge—older than 40Multiple myeloma
Sex—men are at greater riskAge—older than 40
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
Ethnicity: Portuguese, Swedish, JapaneseFamilial Mediterranean fever
If you experience one or more of these, contact your doctor.
Symptoms for all forms of amyloidosis:
FatigueWeight lossEnlarged liverEnlarged spleen
The extent of the disease and the type of organ affected determine the symptoms if any. They 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, skin purpura (purplish skin around the eyes caused by small blood vessels leaking into the skin)Lymphatic system—enlarged lymph nodesEndocrine system—enlarged thyroid gland
Swallowing difficultiesEnlarged tongueEnlarged liverDiarrheaIntestinal obstructionMalabsorption (inadequate absorption of nutrients from the intestinal tract)Clay colored stools
—possible link to development of
Alzheimer’s diseaseNumbness, tingling, weakness in hands and feetSwelling of nerves in the wristWeak hand grip
Fluid accumulation in the tissues, causing swelling (edema)
Abnormal heart rhythm (
Enlarged heartHeart failureSudden deathRespiratory systemDifficulty breathingShortness of breath
Edema in Lower Legs
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This condition can be difficult to diagnose. Underlying conditions may be fatal before it is found. Your doctor will ask about your symptoms and medical history. A physical exam will be done. The doctor may refer you to specialists.
Tests may include the following:
—removes a small sample of tissue or organ, either by needle or incision
—a measure of the electrical activity of the heart to diagnose heart disease
—a detailed, moving image of your heart using high frequency sound waves
Kidney function evaluation—determines if there is excess protein in the urineUrinalysis—chemically and microscopically examines urine for diseaseSerum creatinine—blood test to measure kidney function and muscle massBlood urea nitrogen (BUN) levels—blood test to measure kidney functionAbdominal 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
There is no cure for any form. The main goal is to treat an underlying condition. Treatment to decrease or control symptoms and complications has been only modestly 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. It is used in:
Primary amyloidosisSecondary amyloidosis—an aggressive treatment of the 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. Medicines, 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.
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:
Medicines—such as diuretics (to rid your body of excess fluid) and steroids (to relieve inflammation)Dietary changes—The diet will depend on the organ affected and related complications.Hospice—Treatment to relieve pain and suffering from progressively fatal complications.
There are no known preventative steps.
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Westermark P, Benson MD, Buxbaum JN, et al.
Amyloid: toward terminology clarification.
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Last reviewed March 2013 by Igor Puzanov, 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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