Learn About 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.
Amyloidosis - primary; Immunoglobulin light chain amyloidosis; Primary systemic amyloidosis; Primary localized 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 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 (a group of signs 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 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
- Diarrhea
- Hoarseness or changing voice
- Joint pain
- Weakness
Treatment may include:
- Chemotherapy
- Stem cell transplant
- Organ transplant
If the condition is caused by another disease (secondary amyloidosis), 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.
Saint Francis Medical Center
Daniel Lenihan is an Advanced Heart Failure and Transplant Cardiologist and a Cardiologist in Cape Girardeau, Missouri. Dr. Lenihan is rated as an Elite provider by MediFind in the treatment of Primary Amyloidosis. His top areas of expertise are Cardiac Amyloidosis, Primary Amyloidosis, Heart Failure, Cardiomyopathy, and Heart Transplant. Dr. Lenihan is currently accepting new patients.
Trustees Of Columbia University In The City Of New York
Suzanne Lentzsch is an Oncologist and a Hematologist in New York, New York. Dr. Lentzsch is rated as an Elite provider by MediFind in the treatment of Primary Amyloidosis. Her top areas of expertise are Multiple Myeloma, Primary Amyloidosis, Relapsed Refractory Multiple Myeloma (RRMM), Bone Marrow Transplant, and Tissue Biopsy.
The University Of Chicago
Nitasha Sarswat is a Cardiologist and an Advanced Heart Failure and Transplant Cardiologist in Chicago, Illinois. Dr. Sarswat is rated as an Elite provider by MediFind in the treatment of Primary Amyloidosis. Her top areas of expertise are Cardiac Amyloidosis, Heart Failure, Primary Amyloidosis, Heart Transplant, and Tissue Biopsy. Dr. Sarswat is currently accepting new patients.
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.
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
There is no known prevention for primary amyloidosis.
Summary: Open-label Phase 1b/2 study with primary objective of this study is to evaluate the safety, tolerability and efficacy of AZD0120 in participants with light chain (AL) amyloidosis.
Summary: Immunoglobulin light chain (AL) amyloidosis is the most common form of systemic amyloidosis. AL amyloidosis has many root causes and is characterized by the overproduction of AL that are secreted by clonal bone marrow plasma cells. This is a study to determine adverse events and change in disease activity in adult participants with AL amyloidosis treated with ABBV-383. Etentamig (ABBV-383) is an i...
Published Date: January 01, 2025
Published By: Frank D. Brodkey, MD, FCCM, Associate Professor, Section of Pulmonary and Critical Care Medicine, University of Wisconsin School of Medicine and Public Health, Madison, WI. 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 amyloidoses. 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, Dispenzieri A. Amyloidosis. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 174.
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.