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Primary amyloidosis

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 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:

Primary amyloidosis is rare.


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:

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:

Tests that can help confirm the diagnosis include:

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


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


There is no known prevention for primary amyloidosis.

Alternative Names

Amyloid - primary


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

Update Date 2/8/2015

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