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Amyloidosis 

 Index of pages about amyloidosis

A group of diseases in which insoluble protein fibers are deposited in tissues and organs, impairing their function. These proteins called amyloid proteins Primary amyloidosis is rare, occurring only in 1 out of 100,000 people.

Amyloidosis is know to effect different organs if different people. Some of the organs that can be involved include:

  • tongue
  • intestines
  • muscles
  • ligaments
  • nerves
  • skin
  • heart
  • liver
  • spleen
  • kidneys.

It can also cause decreased heart function, kidney failure, carpal tunnel syndrome, malabsorption, gastrointestinal reflux, and other conditions. The deposits infiltrate the affected organs, causing them to lose resilience and become stiff, which decreases their ability to function.

Amyloidosis as a symptom (know as secondary amyloidosis) can be caused by infection, inflammatory diseases, and sometimes cancer.

 

Symptoms of amyloidosis

  • fatigue
  • numbness of hands and feet
  • weak hand grip
  • weight loss
  • shortness of breath
  • swelling of the extremities
  • swallowing difficulties
  • irregular heart rhythm
  • skin changes
  • enlarged tongue

Additional symptoms that may be associated with this disease:

  • weakness
  • urine output, decreased
  • other tongue problems
  • stools, clay colored
  • diarrhea
  • joint pain
  • hoarseness or changing voice

Diagnosis of amyloidosis

A physical examination that shows several of the symptoms will cause your doctor to perform a urine and \blood test. It these tests detect an abnormal protein this could be suggest amyloidosis. If so your doctor will probably do a biopsy to determine for sure.

If specific organ damage is suspected, testing to confirm amyloidosis of that organ may be performed.

  • biopsy of a tissue or organ will be positive for amyloid. A skin biopsy that includes subcutaneous fat, a rectal mucosa biopsy, or a bone marrow biopsy can help confirm the diagnosis.
  • heart evaluation may reveal arrhythmias, abnormal heart sounds, or signs of heart failure.
    • ECG shows abnormalities.
    • echocardiogram shows poor wall motion because of a stiff heart muscle (cardiomyopathy).
  • kidney function evaluation may reveal renal failure or nephrotic syndrome (excessive protein in the urine).
    • Urinalysis shows protein, casts, or fat bodies.
    • Serum creatinine is increased.
    • BUN is increased.
  • abdominal ultrasound may reveal enlarged liver or spleen.
  • evaluation for carpal tunnel syndrome may reveal involvement of the nerve:
    • Nerve conduction velocity shows a conduction block.
    • Hand grips are weak because of weakness of the thumb.

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

  • tongue biopsy
  • nerve biopsy
  • myocardial biopsy
  • gum biopsy
  • carpal tunnel biopsy
  • Bence-Jones protein (quantitative)
  • immunoelectrophoresis - serum
  • quantitative immunoglobulins
  • urine protein

Treatment  of amyloidosis

One of the main treatments for patients with primary amyloidosis is chemotherapy. directed at the abnormal plasma cells. In secondary amyloidosis, aggressive treatment of the underlying disease can improve symptoms and/or slow progression of disease. Complications such as heart failure, kidney failure, and other problems can sometimes be treated as necessary.

Modified 3-8-2011
Information compiled from the National Institutes of Health by Steven Bell

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