What is the definition of Primary Amyloidosis?

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

What are the alternative names for Primary Amyloidosis?

Amyloidosis - primary; Immunoglobulin light chain amyloidosis; Primary systemic amyloidosis

What are the causes for Primary Amyloidosis?

The cause of primary amyloidosis is not well understood. Genes may play a role.

The condition is related to abnormal and excess production of proteins. Clumps of abnormal proteins build up in certain organs. This makes it harder for the organs 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 and malfunction
• Kidney failure
• Nephrotic syndrome (group of symptoms that includes protein in the urine, low blood protein levels in the blood, high cholesterol levels, high triglyceride levels, and swelling throughout the body)
• Nerve problems (neuropathy)
• Orthostatic hypotension (drop in blood pressure when you stand up)

What are the symptoms for Primary Amyloidosis?

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

Symptoms may include any of the following:

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

Other symptoms that may occur with this disease:

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

What are the current treatments for Primary Amyloidosis?

Treatment may include:

• Chemotherapy
• Stem cell transplant
• Organ 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.

What is the outlook (prognosis) for Primary Amyloidosis?

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 within 2 years.

When should I contact a medical professional for Primary Amyloidosis?

Call your 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

How do I prevent Primary Amyloidosis?

There is no known prevention for primary amyloidosis.

REFERENCES

Gertz MA, Buadi FK, Lacy MQ, Hayman SR. Immunoglobulin light-chain amyloidosis (primary amyloidosis). In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 88.

Hawkins PN. Amyloidosis. In: Hochberg MC, Gravallese EM, Silman AJ, Smolen JS, Weinblatt ME, Weisman MH, eds. Rheumatology. 7th ed. Philadelphia, PA: Elsevier; 2019:chap 177.