Primary amyloid

Alternative names:

amyloid - primary

Symptoms:

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

Additional symptoms that may be associated with this disease:

• wheezing
• weakness
• urine output, decreased
• other tongue problems
• stools, clay colored
• rashes
• muscle contractions
• joint pain
• hoarseness or changing voice

Signs and 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.

• A biopsy of a tissue or organ is positive for amyloid. A skin biopsy that includes subcutaneous fat, a rectal mucosa biopsy, or a bone marrow biopsy are safe, and likely to help confirm the diagnosis.
• A cardiac evaluation may reveal arrhythmias, abnormal heart sounds, or signs of heart failure.
  • ECG shows abnormalities
  • An echocardiogram shows poor wall motion because of a stiff heart muscle (cardiomyopathy).

• A renal evaluation may reveal renal failure or nephrotic syndrome.
  • Urinalysis shows protein, casts, or fat bodies.
  • Serum creatinine is increased.
  • BUN is increased.

• An abdominal ultrasound may reveal enlarged liver or spleen.
• An 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
• rectal biopsy
• nerve biopsy
• myocardial biopsy
• gum biopsy
• carpal tunnel biopsy
• abdominal wall fat pad biopsy
• ACE levels
• Bence-Jones protein (quantitative)
• immunoelectrophoresis - serum
• quantitative immunoglobulins (nephelometry)
• protein, urine