Alternate Names: Amyloid - primary

Causes and Risks: The cause of primary amyloid is unknown. Symptoms are related to the organs that become affected with the deposits. They occur in the following organs: tongue, intestines, skeletal and smooth muscles, nerves, skin, ligaments, heart, liver, spleen, and kidneys. Cardiomyopathy, renal failure, carpal tunnel syndrome, malabsorption (inadequate absorption of nutrients from the intestinal tract), gastrointestinal reflux, and other conditions can result. The deposits infiltrate the organs, causing them to lose resilience and become stiff, resulting in barriers to absorption and diffusion of metabolites. Secondary amyloidosis can occur from an infection or existing inflammatory disease.

Risk factors have not been identified. The incidence of primary amyloid is 1 out of 10,000 people.

Prevention: There is no known preventon.

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

• 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.

• 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

Treatment: There is no specific treatment for amyloidosis. Heart failure, kidney failure, and other problems are treated as necessary.

Prognosis: The severity of the disease depends upon the organs that are affected. Heart and kidney involvement may lead to organ failure and death. Systemic involvement is associated with death in 1 to 3 years.

Complications:

• heart failure
• kidney failure
• endocrine failure (hormonal disorder)
• respiratory failure

Call for an appointment with your health care provider if symptoms of primary amyloid develop.

Call your health care provider if difficulty breathing, persistent swelling of the ankles or other areas, decreased urine output, or other symptoms occur that may indicate that complications have developed.