Primary Amyloidosis Overview
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 (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 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, 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.
Hunterdon Cardiovascular Associates
Austin Kutscher is a Cardiologist in Clinton, New Jersey. Dr. Kutscher has been practicing medicine for over 43 years and is rated as an Experienced provider by MediFind in the treatment of Primary Amyloidosis. His top areas of expertise are Arrhythmias, Heart Failure with Preserved Ejection Fraction (HFpEF), Idiopathic Edema, Bidirectional Tachycardia, and Pacemaker Implantation. Dr. Kutscher is currently accepting new patients.
Devendra Amin is a Cardiologist in Phillipsburg, New Jersey. Dr. Amin and is rated as an Advanced provider by MediFind in the treatment of Primary Amyloidosis. His top areas of expertise are Sitosterolemia, High Cholesterol, Arterial Embolism, Pacemaker Implantation, and Coronary Artery Bypass Graft (CABG).
St Lukes Physician Group Inc
Yacoub Faroun is a Hematologist Oncology specialist and a Hematologist in Easton, Pennsylvania. Dr. Faroun and is rated as an Advanced provider by MediFind in the treatment of Primary Amyloidosis. His top areas of expertise are Chronic Lymphocytic Leukemia (CLL), Richter Syndrome, Chronic B-Cell Leukemia (CBCL), Thrombocytopenia, and Bone Marrow Aspiration.
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: Despite rapidly advancing developments in targeted therapeutics and genetic sequencing, persistent limits in the accuracy and throughput of clinical phenotyping has led to a widening gap between the potential and the actual benefits realized by precision medicine. Recent advances in machine learning and image processing techniques have shown that machine learning models can identify features unrec...
Summary: The study aims, by generating a large registry of patients with ATTR amyloidosis, including data at diagnosis and during follow up, to describe the natural history of ATTR amyloidosis in a real-world setting and to define and validate prognostic models, response criteria applicable at any point of the disease. The registry will also be used for data sharing and to allow the possibility of a close ...
Published Date: February 28, 2023
Published 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.