BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuPrimary amyloidosisAmyloidosis - primary; Immunoglobulin light chain amyloidosis; Primary systemic amyloidosis; Primary localized amyloidosisPrimary 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 syndromeCarpal 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...ImageRead Article Now Book Mark Article Heart muscle damage (cardiomyopathy) leading to congestive heart failure CardiomyopathyCardiomyopathy is disease in which the heart muscle becomes weakened, stretched, or has another structural problem. It often contributes to the hear...ImageRead Article Now Book Mark Article Congestive heart failureHeart 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...ImageRead Article Now Book Mark Article Intestinal malabsorption MalabsorptionMalabsorption involves problems with the body's ability to take in (absorb) nutrients from food.ImageRead Article Now Book Mark Article Liver swelling and malfunction Kidney failure Kidney failureAcute 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...ImageRead 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 syndromeNephrotic 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...ImageRead 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 outputDecreased 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 ...ImageRead Article Now Book Mark Article Diarrhea Hoarseness or changing voice Hoarseness or changing voiceHoarseness refers to difficulty making sounds when trying to speak. Vocal sounds may be weak, breathy, scratchy, or husky, and the pitch or quality ...ImageRead Article Now Book Mark Article Joint pain Joint painJoint pain can affect one or more joints.ImageRead Article Now Book Mark Article 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 liverEnlarged liver refers to swelling of the liver beyond its normal size. Hepatomegaly is another word to describe this problem. If both the liver and ...ImageRead Article Now Book Mark Article 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 Abdominal ultrasoundAbdominal ultrasound is a type of imaging test. It is used to look at organs in the abdomen, including the liver, gallbladder, spleen, pancreas, and...ImageRead Article Now Book Mark Article Heart tests, such as an ECG, ECHO, or MRI ECGAn electrocardiogram (ECG) is a test that records the electrical activity of the heart.ImageRead Article Now Book Mark Article ECHOAn 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...ImageRead 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 MucosaMucosa is moist tissue that lines certain parts of the inside of your body. It is in your: NoseMouthLungsDigestive tractUrinary and genital tracts G...ImageRead Article Now Book Mark Article Treatment Treatment may include:Chemotherapy Stem cell transplant Organ transplantIf 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. SystemicSystemic 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 Article 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.Open ReferencesReferencesBuxbaum 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.AllVideoImagesTogAmyloidosis of the fingers - illustration 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 of the fingersillustrationAmyloidosis of the face - illustration 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.Amyloidosis of the faceillustrationAmyloidosis of the fingers - illustration 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 of the fingersillustrationAmyloidosis of the face - illustration 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.Amyloidosis of the faceillustrationRelated Information Cardiomyopathy(Condition)Acute kidney failure(Condition)Carpal tunnel syndrome(Condition)Malabsorption(Condition)Endocrine glands(Special Topic)Respiratory(Special Topic)Carpal tunnel syndrome - InDepth(In-Depth) Review Date: 2/28/2023 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. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. 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Primary amyloidosisAmyloidosis - primary; Immunoglobulin light chain amyloidosis; Primary systemic amyloidosis; Primary localized amyloidosisPrimary 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 syndromeCarpal 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...ImageRead Article Now Book Mark Article Heart muscle damage (cardiomyopathy) leading to congestive heart failure CardiomyopathyCardiomyopathy is disease in which the heart muscle becomes weakened, stretched, or has another structural problem. It often contributes to the hear...ImageRead Article Now Book Mark Article Congestive heart failureHeart 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...ImageRead Article Now Book Mark Article Intestinal malabsorption MalabsorptionMalabsorption involves problems with the body's ability to take in (absorb) nutrients from food.ImageRead Article Now Book Mark Article Liver swelling and malfunction Kidney failure Kidney failureAcute 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...ImageRead 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 syndromeNephrotic 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...ImageRead 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 outputDecreased 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 ...ImageRead Article Now Book Mark Article Diarrhea Hoarseness or changing voice Hoarseness or changing voiceHoarseness refers to difficulty making sounds when trying to speak. Vocal sounds may be weak, breathy, scratchy, or husky, and the pitch or quality ...ImageRead Article Now Book Mark Article Joint pain Joint painJoint pain can affect one or more joints.ImageRead Article Now Book Mark Article 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 liverEnlarged liver refers to swelling of the liver beyond its normal size. Hepatomegaly is another word to describe this problem. If both the liver and ...ImageRead Article Now Book Mark Article 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 Abdominal ultrasoundAbdominal ultrasound is a type of imaging test. It is used to look at organs in the abdomen, including the liver, gallbladder, spleen, pancreas, and...ImageRead Article Now Book Mark Article Heart tests, such as an ECG, ECHO, or MRI ECGAn electrocardiogram (ECG) is a test that records the electrical activity of the heart.ImageRead Article Now Book Mark Article ECHOAn 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...ImageRead 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 MucosaMucosa is moist tissue that lines certain parts of the inside of your body. It is in your: NoseMouthLungsDigestive tractUrinary and genital tracts G...ImageRead Article Now Book Mark Article Treatment Treatment may include:Chemotherapy Stem cell transplant Organ transplantIf 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. SystemicSystemic 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 Article 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.Open ReferencesReferencesBuxbaum 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.