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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.

Causes

 

The cause of primary amyloidosis is not well understood. Genes may play a role.

The condition is related to abnormal and excess production of proteins. Clumps of abnormal proteins build up in certain organs. This makes it harder for the organs 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.

 

Symptoms

 

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 may include any of the following:

  • 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 health care provider will examine you. You will be asked questions about your medical history and symptoms. A physical exam may show that you have a swollen 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 as an ECG or echocardiogram
  • Kidney function tests to check for signs of kidney failure ( nephrotic syndrome )

Tests that can help confirm the diagnosis include:

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

 

Treatment

 

Treatment may include:

  • Chemotherapy
  • Stem cell transplant

If the condition is caused by another disease, that disease should be aggressively treated. This may improve symptoms or slow 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 which organs are affected. Heart and kidney involvement may lead to organ failure and death. Body-wide ( systemic ) amyloidosis can lead to death within 2 years.

 

When to Contact a Medical Professional

 

Call your health care provider if you 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

 

Prevention

 

There is no known prevention for primary amyloidosis.

 

 

Open References

References

Gertz MA, Buadi FK, Zeldenrust SR, Hayman SR. Immunoglobulin light-chain amyloidosis (primary amyloidosis). In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, Anastasi J, eds. Hematology: Basic Principles and Practice . 6th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap 87.

 
  • Amyloidosis on the fingers

    Amyloidosis on the fingers - illustration

    Amyloidosis refers to the extracellular deposition of a protein called amyloid. This protein deposition can affect multiple organs. The deposition of amyloid may be a by-product of normal aging, or may occur with several other conditions. In this picture, we see how amyloidosis can affect the skin as nodular deposits on the fingers.

    Amyloidosis on the fingers

    illustration

  • Amyloidosis on the face

    Amyloidosis on the face - illustration

    Amyloidosis refers to deposits of a protein (called amyloid) in the tissues. This condition can affect multiple organs. The deposition of amyloid may be a by-product of normal aging. In this picture, we see how amyloidosis can cause a patchy, bruised appearance to the skin. Bruises of the skin around the eyes are referred to as the characteristic "pinched purpura".

    Amyloidosis on the face

    illustration

    • Amyloidosis on the fingers

      Amyloidosis on the fingers - illustration

      Amyloidosis refers to the extracellular deposition of a protein called amyloid. This protein deposition can affect multiple organs. The deposition of amyloid may be a by-product of normal aging, or may occur with several other conditions. In this picture, we see how amyloidosis can affect the skin as nodular deposits on the fingers.

      Amyloidosis on the fingers

      illustration

    • Amyloidosis on the face

      Amyloidosis on the face - illustration

      Amyloidosis refers to deposits of a protein (called amyloid) in the tissues. This condition can affect multiple organs. The deposition of amyloid may be a by-product of normal aging. In this picture, we see how amyloidosis can cause a patchy, bruised appearance to the skin. Bruises of the skin around the eyes are referred to as the characteristic "pinched purpura".

      Amyloidosis on the face

      illustration

    A Closer Look

     

      Self Care

       

        Tests for Primary amyloidosis

         
           

          Review Date: 2/8/2015

          Reviewed By: Laura J. Martin, MD, MPH, ABIM Board Certified in Internal Medicine and Hospice and Palliative Medicine, Atlanta, GA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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