Click here to return to the LMHS Home Page

 

Print-Friendly
Bookmarks

Primary amyloidosis

Amyloid - primary

 

Primary amyloidosis is a 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
  • Nerve problems (neuropathy)
  • Orthostatic hypotension (drop in blood pressure when you stand up)

Primary amyloidosis is rare.

 

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 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:

  • Decreased urine output
  • Diarrhea
  • Hoarseness or changing voice
  • Joint pain
  • Weakness

 

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:

  • Abdominal ultrasound to check the liver and spleen
  • Heart tests such as an ECG or echocardiogram
  • 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

 

Treatment

 

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

 

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.

BACK TO TOPText only

 
  • Amyloidosis on the fingers

    Amyloidosis on the finge...

    illustration

  • Amyloidosis on the face

    Amyloidosis on the face

    illustration

    • Amyloidosis on the fingers

      Amyloidosis on the finge...

      illustration

    • Amyloidosis on the face

      Amyloidosis on the face

      illustration

    A Closer Look

     

      Self Care

       

        Tests for Primary amyloidosis

         
           

          Review Date: 2/8/2015

          Reviewed By: Laura J. Martin, MD, MPH, ABIM Board Certified in Internal Medicine and Hospice and Palliative Medicine, Atlanta, GA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

          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. 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.
          adam.com

           
           
           

           

           

          A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.