ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Primary amyloid

Primary amyloid

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

Additional symptoms that may be associated with this disease:

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:

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 Your Healthcare Provider:
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.

Amyloidosis refers to the extracellular deposition of a protein called amyloid. These protein deposits can affect multiple organs. The deposition of amyloid may be a by-product of normal aging, or may be seen with several conditions. In this picture, amyloidosis has produced a patchy appearance.

Amyloidosis refers to the extracellular deposition of a protein called amyloid. This protein deposition can affect multiple organs. The deposition of amyloid may be a by-product of normal aging, or may occur with several other conditions. In this picture, we see how amyloidosis can affect the skin as nodular deposits on the fingers.

Amyloidosis refers to deposits of a protein (called amyloid) in the tissues. This condition can affect multiple organs. The deposition of amyloid may be a by-product of normal aging. In this picture, we see how amyloidosis can cause a patchy, bruised appearance to the skin. Bruises of the skin around the eyes are referred to as the characteristic "pinched purpura".