Primary amyloidosis

Alternative Names

Amyloid - primary

Definition

Primary amyloidosis is a disorder in which abnormal proteins build up in tissues and organs. Clumps of the abnormal proteins are called amyloid deposits.

Causes

The cause of primary amyloidosis is unknown. The condition is related to abnormal and excess production of antibodies by a type of immune cell called plasma cells. Clumbs of abnormal proteins build up in certain organs. This reduces their ability to work correctly.

Primary amyloidosis can lead to conditions that include:

• Carpal tunnel syndrome
• Heart muscle damage (cardiomyopathy) leading to congestive heart failure
• Intestinal malabsorption
• Liver swelling
• Kidney failure
• Nephrotic syndrome
• Nerve problems (neuropathy)
• Orthostatic hypotension (drop in blood pressure when you stand up)

Primary amyloidosis is rare. It is similar to multiple myeloma.

Symptoms

Symptoms depend on the organs affected. This disease can affect the tongue, intestines, skeletal and smooth muscles, nerves, skin, ligaments, heart, liver, spleen, and kidneys.

Symptoms include:

• Abnormal heart rhythm
• Swollen tongue
• Fatigue
• Numbness of hands or feet
• Shortness of breath
• Skin changes
• Swallowing problems
• Swelling in the arms and legs
• Weak hand grip
• Weight loss

Other symptoms that may occur with this disease:

• Decreased urine output
• Diarrhea
• Hoarseness or changing voice
• Joint pain
• Weakness

Exams and Tests

The doctor or nurse will examine you. You will be asked questions about your medical history and symptoms. A physical exam may show that you have an swollen liver or spleen.

The first step in diagnosing amyloidosis should be blood and urine tests to look for abnormal proteins.

Other tests depend on your symptoms and what organ may be affected. Some tests include:

• Abdominal ultrasound to check the liver and spleen.
• Heart tests such as an ECG or echocardiogram.
• A carpal tunnel syndrome exam to check for a weak hand grip, including a nerve conduction velocity test.
• Kidney function tests to check for signs of kidney failure (nephrotic syndrome).

Tests that can help confirm the diagnosis include:

• Abdominal fat pad aspiration
• Bone marrow biopsy
• Rectal mucosa biopsy

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

• Bence-Jones protein (quantitative)
• Carpal tunnel biopsy
• Gum biopsy
• Immunoelectrophoresis - serum
• Myocardial biopsy
• Nerve biopsy
• Quantitative immunoglobulins
• Tongue biopsy
• Urine protein

Treatment

This condition is treated the same way as multiple myeloma.

Treatment may include:

• Chemotherapy 
• Stem cell transplant

If the condition is caused by another disease, that disease should be aggressively treated. This may improve symptoms or slow the disease from getting worse. Complications such as heart failure, kidney failure, and other problems can sometimes be treated, when needed.

Outlook (Prognosis)

How well you do depends on which organs are affected. Heart and kidney involvement may lead to organ failure and death. Body-wide ( systemic) amyloidosis can lead to death in 1 to 3 years.

Possible Complications

• Congestive heart failure
• Death
• Kidney failure
• Respiratory failure

When to Contact a Medical Professional

Call your health care provider if you have symptoms of this disease. Also call if you have been diagnosed with this disease and have:

• Decreased urine
• Difficulty breathing
• Swelling of the ankles or other body parts that does not go away

Prevention

There is no known prevention for primary amyloidosis.

References

Gertz MA. Amyloidosis. In: Goldman L, Schafer AI, eds. Cecil Medicine. 24th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 194.