Primary Amyloidosis

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Primary Amyloidosis Diagnosis & Tests

A physical examination may show enlarged liver or spleen. There may be signs of heart failure.

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

• 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.

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