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    Primary amyloidosis

    Amyloid - primary

    Primary amyloidosis is a disorder in which abnormal proteins build up in tissues and organs. Clumps of the abnormal proteins are called amyloid deposits.


    The cause of primary amyloidosis is unknown. The condition is related to abnormal and excess production of antibodies by a type of immune cell called plasma cells. Clumbs of abnormal proteins build up in certain organs. This reduces their ability to work correctly.

    Primary amyloidosis can lead to conditions that include:

    • Carpal tunnel syndrome
    • Heart muscle damage (cardiomyopathy) leading to congestive heart failure
    • Intestinal malabsorption
    • Liver swelling
    • Kidney failure
    • Nephrotic syndrome
    • Nerve problems (neuropathy)
    • Orthostatic hypotension (drop in blood pressure when you stand up)

    Primary amyloidosis is rare. It is similar to multiple myeloma.


    Symptoms depend on the organs affected. This disease can affect the tongue, intestines, skeletal and smooth muscles, nerves, skin, ligaments, heart, liver, spleen, and kidneys.

    Symptoms include:

    • Abnormal heart rhythm
    • Swollen tongue
    • Fatigue
    • Numbness of hands or feet
    • Shortness of breath
    • Skin changes
    • Swallowing problems
    • Swelling in the arms and legs
    • Weak hand grip
    • Weight loss

    Other symptoms that may occur with this disease:

    • Decreased urine output
    • Diarrhea
    • Hoarseness or changing voice
    • Joint pain
    • Weakness

    Exams and Tests

    The doctor or nurse will examine you. You will be asked questions about your medical history and symptoms. A physical exam may show that you have answollen liver or spleen.

    The first step in diagnosing amyloidosis should be blood and urine tests to look for abnormal proteins.

    Other tests depend on your symptoms and what organ may be affected. Some tests include:

    • Abdominal ultrasound to check the liver and spleen.
    • Heart tests such asan ECGor echocardiogram.
    • A carpal tunnel syndrome exam to check for a weak hand grip, including anerve conduction velocity test.
    • Kidney function tests to check for signs of kidney failure (nephrotic syndrome).

    Tests that canhelp confirm the diagnosis include:

    • Abdominal fat pad aspiration
    • Bone marrow biopsy
    • Rectal mucosa biopsy

    This disease may also affect the results of the following tests:

    • Bence-Jones protein (quantitative)
    • Carpal tunnel biopsy
    • Gum biopsy
    • Immunoelectrophoresis - serum
    • Myocardial biopsy
    • Nerve biopsy
    • Quantitative immunoglobulins
    • Tongue biopsy
    • Urine protein


    This condition is treated the same way as multiple myeloma.

    Treatment may include:

    • Chemotherapy
    • Stem cell transplant

    If the condition is caused by another disease, that disease should be aggressively treated. This mayimprove symptoms orslow the disease from getting worse. Complications such as heart failure, kidney failure, and other problems can sometimes be treated, when needed.

    Outlook (Prognosis)

    How well you do depends on whichorgansare affected. Heart and kidney involvement may lead to organ failure and death. Body-wide ( systemic) amyloidosis can lead to death in 1 to 3 years.

    Possible Complications

    • Congestive heart failure
    • Death
    • Kidney failure
    • Respiratory failure

    When to Contact a Medical Professional

    Call your health care provider ifyou have symptoms of this disease. Also call if you have been diagnosed with this disease and have:

    • Decreased urine
    • Difficulty breathing
    • Swelling of the ankles or other body parts that does not go away


    There is no known prevention for primary amyloidosis.


    Gertz MA. Amyloidosis. In: Goldman L, Schafer AI, eds. Cecil Medicine. 24th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 194.


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      A Closer Look

        Self Care

          Tests for Primary amyloidosis

            Review Date: 1/1/2013

            Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine. Also reviewed by A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, David R. Eltz, Stephanie Slon, and Nissi Wang.

            The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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