Primary amyloidosis

Definition

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.

Alternative Names

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

Causes

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

The condition is related to abnormal and excess production of specific proteins. The 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 (due to protein deposits in the nerve)
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 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)

Symptoms

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, kidneys, and bladder.

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:

Exams and Tests

The health care provider will examine you. You will be asked about your medical history and symptoms. A physical exam may show that you have a swollen liver or spleen, or signs of heart or nerve damage.

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

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

Abdominal ultrasound to check the liver and spleen
Heart tests, such as an ECG, ECHO, or MRI
Kidney function tests to check for signs of kidney damage (nephrotic syndrome or renal insufficiency)

Tests that can help confirm the diagnosis include:

Abdominal fat pad aspiration
Bone marrow biopsy
Heart muscle biopsy
Rectal mucosa biopsy

Treatment

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.

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 within 2 years.

When to Contact a Medical Professional

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

Decreased urination
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

Buxbaum JN. The systemic amyloidosis. In: Hochberg MC, Gravallese EM, Smolen JS, van der Hejide D, Weinblatt ME, Weisman MH, eds. Rheumatology. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 177.

Gertz MA. Amyloidosis. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 179.

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. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 93.