• Amyloidosis

    (Amyloid; Primary Amyloid; Secondary Amyloid; Hereditary Amyloid)


    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 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
    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, multiple myeloma )
    • Secondary amyloidosis—develops in response to chronic infection or inflammatory disease
    • Hereditary amyloidosis—caused by mutations of amyloid in the blood

    Risk Factors

    The following factors increase your chance of developing amyloidosis:
      Primary amyloidosis
      • Sex—men are at greater risk
      • Age—older than 40
      • Multiple myeloma
      Secondary amyloidosis
      • Sex—men are at greater risk
      • Age—older than 40
      • Underlying chronic inflammatory or infectious diseases, such as: tuberculosis , rheumatoid arthritis , osteomyelitis
      • History of Mediterranean fever
      • Hemodialysis —removal of blood from the arteries, cleansing it, adding nutrients, and returning it to the veins
      • Family history
      Hereditary amyloidosis
      • Ethnicity: Portuguese, Swedish, Japanese
      • Familial Mediterranean fever


    If you experience one or more of these, contact your doctor.
      Symptoms for all forms of amyloidosis:
      • Fatigue
      • Weight loss
      • Enlarged liver
      • Enlarged spleen
      • Signs of heart failure
    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:
    • Urinary tract— kidney failure
    • Skin—easy bruising, skin purpura (purplish skin around the eyes caused by small blood vessels leaking into the skin)
    • Lymphatic system—enlarged lymph nodes
    • Endocrine system—enlarged thyroid gland
    • Digestive system
      • Swallowing difficulties
      • Enlarged tongue
      • Enlarged liver
      • Diarrhea
      • Intestinal obstruction
      • Malabsorption (inadequate absorption of nutrients from the intestinal tract)
      • Clay colored stools
      Neurological system
      • Dementia —possible link to development of Alzheimer’s disease
      • Numbness, tingling, weakness in hands and feet
      • Swelling of nerves in the wrist
      • Weak hand grip
      Cardiovascular system
      • Fluid accumulation in the tissues, causing swelling (edema)
      • Abnormal heart rhythm ( arrhythmia )
      • Enlarged heart
      • Heart failure
      • Sudden death
      • Respiratory system
      • Difficulty breathing
      • Shortness of breath
    Edema in Lower Legs
    Pedal Edema
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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:
    • Biopsy —removes a small sample of tissue or organ, either by needle or incision
    • Electrocardiogram (ECG) —a measure of the electrical activity of the heart to diagnose heart disease
    • Echocardiogram —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


    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:


    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. It is used in:
    • Primary amyloidosis
    • Secondary amyloidosis—an aggressive treatment of the underlying inflammatory process or disease
    • Hereditary amyloidodis

    Stem Cell Transplantation

    Stem cells are immature cells. They are transplanted 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.

    Organ Transplantation

    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

    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.


    Amyloidosis Support Groups http://www.amyloidosissupport.com/

    Amyloidosis Support Network http://www.amyloidosis.org/


    Canadian Organization for Rare Disorders http://www.raredisorders.ca/

    The Kidney Foundation of Canada http://www.kidney.ab.ca/


    Amyloidosis. Amyloidosis Support Network. Available at: http://www.amyloidosis.org/ . Accessed September 15, 2005.

    Dambro MR. Griffith's 5-Minute Clinical Consult. Philadelphia, PA: Lippincott Williams & Wilkins; 2001.

    DynaMed Editorial Team. Amyloidosis. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated October 11, 2010. Accessed October 20, 2010.

    Mayo Clinic. Amyloidosis. Mayo Clinic website. Available at: http://www.mayoclinic.com/health/amyloidosis/DS00431 . Updated July 8, 2010. Accessed October 20, 2010.

    Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med. 2003; 349:583.

    Special subjects amyloidosis. Merck Manual website. Available at: http://www.mercksource.com/pp/us/cns/cns%5Fmerckmanual%5Fframeset.jsp . Accessed September 14, 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.

    Revision Information

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