Amyloidosis is a group of diseases in which an abnormal protein called amyloid builds up in the organs and tissues. This protein is soluble in its normal form, but it becomes insoluble and starts to build up when it is misfolded (misshaped).The buildup may happen in a single organ (localized) or throughout the body (systemically). Amyloid deposits can affect any organ or tissue.
There are three major types of systemic amyloidosis:
Localized amyloidosis is associated with aging, as the body seems to naturally make amyloid as it ages. Different abnormal proteins or protein fragments may be involved. Two common conditions associated with localized amyloidosis are type 2 diabetes (where protein builds up in the pancreas) and Alzheimer's disease (where protein builds up in the brain). Beta2-microglobulin amyloidosis occurs in people with kidney failure who have been on dialysis for a long time (beta2 -microglobulin is a protein that can build up in the blood and joints as a result of kidney failure).
The signs and symptoms of amyloidosis depend on the location and size of the amyloid deposits.
Amyloidosis may affect any tissue and give rise to:
Symptoms may be vague and can include the following:
There is no certain cause for amyloidosis. The disease arises due to protein misfolding. Hereditary amyloidosis results from genetic changes that cause the body to make abnormal proteins. Abnormal or misfolded proteins deposition affects the function of organs. Once amyloid deposits start, they seem to continue building up in the same locations. The heart, kidneys, nervous system, and GI tract are the most commonly affected.
People with the following profile are at increased risk for developing amyloidosis:
Your health care provider may suspect amyloidosis based on your symptoms, and will perform a physical exam, including blood or urine tests. Other conditions must be excluded. The only way your doctor can definitively diagnose amyloidosis is using a needle to remove a small amount of tissue to test for amyloid (called a biopsy). With hereditary amyloidosis, DNA tests may reveal the genetic change that caused the condition. Special studies of tissue samples may show the structure of amyloid deposits. Depending on the signs and symptoms, your health care provider may use other tests to learn more about your condition, such as which organs are affected and whether your condition is getting worse.
There is no cure for amyloidosis. Treatment focuses on lessening symptoms and reducing production of amyloid.
Those who have hereditary amyloidosis should consider going to genetic counseling to learn about the risks of passing the condition to their children.
Treatment involves decreasing the proteins that can make up amyloid. Doctors may use chemotherapy or stem cell transplantation to treat AL. For AA (secondary amyloidosis), the underlying condition must be treated. A liver transplant may be necessary for hereditary amyloidosis.
Depending on which organs are affected, your health care provider may also ask you to follow a special diet (a low-sodium diet, for example, may help control fluid retention if your heart or kidneys are affected).
To treat secondary (AA) amyloidosis, specific treatments for the underlying infectious or inflammatory condition are used.
To treat primary (AL) amyloidosis, doctors use combinations of prednisone (a corticosteroid) and melphalan (Alkeran, also used to treat some kinds of cancer). Other chemotherapy drugs may be used. Stem cell transplants are also a treatment for AL.
To help manage symptoms, your health care provider may suggest:
Depending on which parts of the body are affected, if you have amyloidosis you may need one of the following procedures:
Dietary choices, supplements, and herbs that reduce inflammation may help prevent worsening amyloidosis. Amyloidosis should never be treated with complementary and alternative therapies alone. Work with a knowledgeable provider and inform all of your health care providers about any medications, herbs, or supplements you are taking.
Reducing salt intake can slow disease progression if the heart or kidneys are affected.
No diet plan or supplements prevent or treat amyloidosis. The following supplements are sometimes used by people with amyloidosis:
Flavonoids are compounds found in some plants that may help fight damage from stress, oxidation, and inflammation. Herbs rich in flavonoids are sometimes used by people with Alzheimer disease and other types of amyloidosis:
Previously, AL was thought to be untreatable and deadly. With current therapy, most patients survive between 2 and 10 years after diagnosis. Survival depends on the extent of heart and kidney involvement.
After diagnosis, your doctor may perform tests on a regular basis to check levels of protein-related substances, the size and placement of amyloid deposits, the development of the disease, and the effects of treatment.
Bastianetto S, Ramassamy C, Doré S, Christen Y, Poirier J, Quirion R. The Ginkgo biloba extract (EGb 761) protects hippocampal neurons against cell death induced by beta-amyloid. Eur J Neurosci. 2000;12(6):1882-1890. PMID:10886329 www.ncbi.nlm.nih.gov/pubmed/10886329.
Barron KS, Ombrello A. Amyloidosis. In: Kliegman RM, Stanton BF, St Geme JW, Nina F. Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier. 2016:chap 164.
Brenn A, Grube M, Jedlitschky G, et al. St. John's Wort reduces beta-amyloid accumulation in a double transgenic Alzheimer's disease mouse model-role of P-glycoprotein. Brain Pathol. 2014;24(1):18-24. PMID: 23701205 www.ncbi.nlm.nih.gov/pubmed/23701205.
Budd RC, Seldin DC. Amyloidosis. In: Firestein GS, Budd RC, Gabriel SE, McInnes IB, O’Dell JR, eds. Kelley and Firestein's Textbook of Rheumatology. 10th ed. Philadelphia, PA: Elsevier Saunders; 2017:chap. 116.
Falk RH, Skinner M. The systemic amyloidoses: an overview. Adv Intern Med. 2000;45:107-137. PMID: 10635047 www.ncbi.nlm.nih.gov/pubmed/10635047.
Gertz MA. Amyloidosis. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 188.
Gu Y, Schupf N, Cosentino SA, Luchsinger JA, Scarmeas N. Nutrient intake and plasma ß-amyloid. Neurology. 2012;78(23):1832-1840. PMID: 22551728 www.ncbi.nlm.nih.gov/pubmed/22551728.
Hawkins PN. Amyloidosis. In: Hochberg MC, Silman AJ, Smolen JS, Weinblatt ME, Weisman MH, eds. Rheumatology. 6th ed. Philadephia, PA: Elsevier Mosby 2015:chap 168.
Kook SY, Lee KM, Kim Y, et al. High-dose of vitamin C supplementation reduces amyloid plaque burden and ameliorates pathological changes in the brain of 5XFAD mice. Cell Death Dis. 2014;5:e1083. PMID: 24577081 www.ncbi.nlm.nih.gov/pubmed/24577081.
Lim GP, Calon F, Morihara T, et al. A diet enriched with the omega-3 fatty acid docosahexaenoic acid reduces amyloid burden in an aged Alzheimer mouse model. J Neurosci. 2005;25(12):3032-3040. PMID:15788759 www.ncbi.nlm.nih.gov/pubmed/15788759.
Liu X, Hao W, Qin Y, et al. Long-term treatment with Ginkgo biloba extract EGb 761 improves symptoms and pathology in a transgenic mouse model of Alzheimer's disease. Brain Behav Immun. 2015;46:121-131. PMID: 25637484 www.ncbi.nlm.nih.gov/pubmed/25637484.
Naqvi BH, Ferri FF. Amyloidosis. In Ferri FF, ed. Ferri's Clinical Advisor 2018. Philadephia, PA: Elsevier; 2018:76.e3-76.e6.
Okuda Y, Yamada T, Matsuura M, Takasugi K, Goto M. Ageing: a risk factor for amyloid A amyloidosis in rheumatoid arthritis. Amyloid. 2011:18(3):108-111. PMID: 21627560 www.ncbi.nlm.nih.gov/pubmed/21627560.
Ravid M, Chen B, Bernheim J, Kedar I. Ascorbic acid-induced regression of amyloidosis in experimental animals. Br J Exp Pathol. 1985;66(2):137-141. PMID: 3986127 www.ncbi.nlm.nih.gov/pubmed/3986127.
Rhein V, Giese M, Baysang G, et al. Ginkgo biloba extract ameliorates oxidative phosphorylation performance and rescues abeta-induced failure. PLoS One. 2010;5(8):e12359. PMID: 20808761 www.ncbi.nlm.nih.gov/pubmed/20808761.
Rigacci S, Stefani M. Nutraceuticals and amyloid neurodegenerative diseases: a focus on natural phenols. Expert Rev Neurother. 2015;15(1):41-52. PMID: 25418871 www.ncbi.nlm.nih.gov/pubmed/25418871.
Sabogal-Guáqueta AM, Muñoz-Manco JI, Ramírez-Pineda JR, Lamprea-Rodriguez M, Osorio E, Cardona-Gómez GP. The flavonoid quercetin ameliorates Alzheimer's disease pathology and protects cognitive and emotional function in aged triple transgenic Alzheimer's disease model mice. Neuropharmacology. 2015;93:134-145. PMID: 25666032 www.ncbi.nlm.nih.gov/pubmed/25666032.
Wang DM1, Li SQ, Wu WL, Zhu XY, Wang Y, Yuan HY. Effects of long-term treatment with quercetin on cognition and mitochondrial function in a mouse model of Alzheimer's disease. Neurochem Res. 2014;39(8):1533-1543. PMID: 24893798 www.ncbi.nlm.nih.gov/pubmed/24893798.
Wechalekar AD1, Gillmore JD2, Hawkins PN2. Systemic amyloidosis. Lancet. 2016;387(10038):2641-2654. PMID: 26719234 www.ncbi.nlm.nih.gov/pubmed/26719234.
Westermark GT, Fändrich M, Westermark P. AA amyloidosis: pathogenesis and targeted therapy. Annu Rev Pathol. 2015;10:321-344. PMID: 25387054 www.ncbi.nlm.nih.gov/pubmed/25387054.
Yassine HN, Feng Q, Azizkhanian I, et al. Association of serum docosahexaenoic acid with cerebral amyloidosis. JAMA Neurol. 2016;73(10):1208-1216. PMID: 27532692 www.ncbi.nlm.nih.gov/pubmed/27532692.
Yuan Q, Wang CW, Shi J, Lin ZX. Effects of Ginkgo biloba on dementia: An overview of systematic reviews. J Ethnopharmacol. 2017;195:1-9. PMID: 27940086 www.ncbi.nlm.nih.gov/pubmed/27940086.
Zhang X, Hu J, Zhong L, et al. Quercetin stabilizes apolipoprotein E and reduces brain Aß levels in amyloid model mice. Neuropharmacology. 2016;108:179-192. PMID: 27114256 www.ncbi.nlm.nih.gov/pubmed/27114256.
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