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Primary amyloidosis

Definition

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

Alternative Names

Amyloid - primary

Causes, incidence, and risk factors

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:

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

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 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:

Signs 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 an 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

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

Treatment

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 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.

Expectations (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 in 1 to 3 years.

Complications

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

Calling your health care provider

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.

References

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


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. Call 911 for all medical emergencies. 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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