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.
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)
Carpal tunnel syndrome
Carpal tunnel syndrome is a condition in which there is excessive pressure on the median nerve at the wrist. This is the nerve that allows feeling a...
Read Article Now Book Mark Article - Heart muscle damage (cardiomyopathy) leading to congestive heart failure
Cardiomyopathy
Cardiomyopathy is disease in which the heart muscle becomes weakened, stretched, or has another structural problem. It often contributes to the hear...
Read Article Now Book Mark ArticleCongestive heart failure
Heart failure is a condition in which the heart is no longer able to pump oxygen-rich blood to the rest of the body efficiently. This causes symptom...
Read Article Now Book Mark Article - Intestinal malabsorption
Malabsorption
Malabsorption involves problems with the body's ability to take in (absorb) nutrients from food.
Read Article Now Book Mark Article - Liver swelling and malfunction
- Kidney failure
Kidney failure
Acute kidney failure is the rapid (less than 2 days) loss of your kidneys' ability to remove waste and help balance fluids and electrolytes in your b...
Read Article Now Book Mark Article - 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)
Nephrotic syndrome
Nephrotic syndrome is a group of symptoms and abnormal test results that include protein in the urine, low blood protein levels in the blood, high ch...
Read Article Now Book Mark Article - 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:
- Decreased urine output
Decreased urine output
Decreased urine output means that you produce less urine than normal. Most adults make at least 500 milliliters of urine in 24 hours (a little over ...
Read Article Now Book Mark Article - Diarrhea
- Hoarseness or changing voice
Hoarseness or changing voice
Hoarseness refers to difficulty making sounds when trying to speak. Vocal sounds may be weak, breathy, scratchy, or husky, and the pitch or quality ...
Read Article Now Book Mark Article - Joint pain
- Weakness
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.
Swollen liver
Enlarged liver refers to swelling of the liver beyond its normal size. Hepatomegaly is another word to describe this problem. If both the liver and ...
Read Article Now Book Mark ArticleThe 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
Abdominal ultrasound
Abdominal ultrasound is a type of imaging test. It is used to look at organs in the abdomen, including the liver, gallbladder, spleen, pancreas, and...
Read Article Now Book Mark Article - Heart tests, such as an ECG, ECHO, or MRI
ECG
An electrocardiogram (ECG) is a test that records the electrical activity of the heart.
Read Article Now Book Mark ArticleECHO
An echocardiogram is a test that uses sound waves to create pictures of the heart. The picture and information it produces is more detailed than a s...
Read Article Now Book Mark Article - 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
Mucosa
Mucosa is moist tissue that lines certain parts of the inside of your body. It is in your: NoseMouthLungsDigestive tractUrinary and genital tracts G...
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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.
Systemic
Systemic means affecting the entire body, rather than a single organ or body part. For example, systemic disorders, such as high blood pressure, or s...
Read Article Now Book Mark ArticleWhen 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.
Reviewed By
Jacob Berman, MD, MPH, Clinical Assistant Professor of Medicine, Division of General Internal Medicine, University of Washington School of Medicine, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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.