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Primary amyloidosis

Definition

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.

Alternative Names

Amyloidosis - primary; Immunoglobulin light chain amyloidosis

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:

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.


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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