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Primary amyloidosis

Amyloidosis - primary; Immunoglobulin light chain amyloidosis

Primary amyloidosis is a rare 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 (group of symptoms that includes protein in the urine, low blood protein levels in the blood, high cholesterol levels, high triglyceride levels, and swelling)
  • Nerve problems (neuropathy)
  • Orthostatic hypotension (drop in blood pressure when you stand up)

Symptoms

Symptoms depend on the organs affected. This disease can affect many organs and tissues, including 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 or weight gain

Other symptoms that may occur with this disease:

Exams and Tests

The health care provider will examine you. You will be asked 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 the organ that may be affected. Some tests include:

  • Abdominal ultrasound to check the liver and spleen
  • Heart tests, such as an ECG, or echocardiogram, or MRI
  • 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
  • Cardiac muscle biopsy

Treatment

Treatment may include:

  • Chemotherapy
  • Stem cell transplant
  • Organ 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 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.

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.

Hawkins PN. Amyloidosis. In: Hochberg MC, Silman AJ, Smolen JS, Weinblatt ME, Weisman MH, eds. Rheumatology.  6th ed. Philadelphia, PA: Elsevier Mosby; 2015:chap 168.

    • 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

      Review Date: 1/14/2017

      Reviewed By: Robert Hurd, MD, Professor of Endocrinology and Health Care Ethics, Xavier University, Cincinnati, OH. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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