Amyloidosis - primary; Immunoglobulin light chain amyloidosis; Primary systemic amyloidosis; Primary localized 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.
The cause of primary amyloidosis is not well understood. Genes may play a role.
The condition is related to abnormal and excess production of specific proteins. The proteins build up in certain organs. This makes it harder for the organs to work correctly.
Primary amyloidosis can lead to conditions that include:
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, kidneys, and bladder.
Symptoms may include any of the following:
Other symptoms that may occur with this disease:
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, or signs of heart or nerve damage.
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:
Tests that can help confirm the diagnosis include:
Treatment may include:
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.
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.
Contact your provider if you have symptoms of this disease. Also call if you have been diagnosed with this disease and have:
There is no known prevention for primary amyloidosis.
Buxbaum JN. The systemic amyloidosis. In: Hochberg MC, Gravallese EM, Smolen JS, van der Hejide D, Weinblatt ME, Weisman MH, eds. Rheumatology. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 177.
Gertz MA. Amyloidosis. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 179.
Gertz MA, Buadi FK, Lacy MQ, Hayman SR. Immunoglobulin light-chain amyloidosis (primary amyloidosis). In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 93.BACK TO TOP
Review Date: 2/28/2023
Reviewed By: Jacob Berman, MD, MPH, Clinical Assistant Professor of Medicine, Division of General Internal Medicine, University of Washington School of Medicine, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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