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 Farmington, Missouri. Dr. Lenihan and 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.
University Medical Associates Of The Medical University Of South Carol
Daniel Judge is an Advanced Heart Failure and Transplant Cardiologist and a Cardiologist in Charleston, South Carolina. Dr. Judge and is rated as an Elite provider by MediFind in the treatment of Primary Amyloidosis. His top areas of expertise are Cardiomyopathy, Cardiac Amyloidosis, Transthyretin Amyloid Cardiomyopathy, Heart Transplant, and Cardiac Ablation. Dr. Judge 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 and 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), Monoclonal Gammopathy of Undetermined Significance (MGUS), and Bone Marrow Transplant.
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: This study will test a medicine, NNC6019-0001, for people who have a heart disease due to TTR amyloidosis. It will look at how safe this medicine is in the long term and if it can reduce symptoms of a heart disease due to TTR amyloidosis, such as heart failure. It is an extension to a study called A research study to look at how a new medicine called NNC6019-0001 works and how safe it is for peopl...
Summary: This study will be conducted to evaluate the efficacy and safety of a single dose of nexiguran ziclumeran (NTLA-2001) compared to placebo in participants with ATTRv-PN.
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.