Amyloidosis is a group of diseases in which a protein, called amyloid, builds up in the organs and tissues. The buildup may happen in a single organ (localized) or throughout the body (systemically). Amyloid deposits can affect any organ or tissue. Between 1,500 and 3,500 new cases are diagnosed every year.
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. 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 as a result of kidney failure).
The signs and symptoms of amyloidosis depend on the location and size of the amyloid deposits.
AL may affect any tissue. Signs and symptoms may be vague and can include the following:
Signs and symptoms of hereditary amyloidosis may include the following:
Signs and symptoms of secondary amyloidosis may include the following:
Most people who are diagnosed with AA have had their related inflammatory disease for a decade or more.
No one knows what causes amyloidosis, and there may be more than one cause. Hereditary amyloidosis results from genetic changes that cause the body to make abnormal proteins. Researchers think that as we get older, damage builds up in the body and triggers the disease. This kind of damage may come from the body's use of oxygen (oxidation) and from free radicals (harmful byproducts formed when cells use energy). Amyloid is also more likely to form in people who have immune system problems. 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. The only way your doctor can definitively diagnose amyloidosis is by doing a biopsy, using a needle to remove a small amount of tissue to test for amyloid. With hereditary amyloidosis, DNA tests may reveal the genetic change that caused the condition. Special x-ray 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 find out 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 production of amyloid through diet and medications
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. Chemotherapy is used to treat AL. Depending on the organs that are affected, your health care provider may 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). There is no cure for AA, but medication can improve survival. The underlying condition must be treated. A liver transplant may be necessary for hereditary amyloidosis.
A combination of prednisone (a corticosteroid) and melphalan (Alkeran, also used to treat some kinds of cancer) is used to treat AL. Stem cell transplants are also a treatment for AL.
To help relieve 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 amyloidosis. Damage from oxidation may play a role in the development of amyloidosis (see What Causes It? section), so you may want to add antioxidants to your diet to help slow the disease. Amyloidosis should never be treated with complementary and alternative therapies alone. Inform all of your health care providers about any medications, herbs, or supplements you are taking.
Some animal studies suggest that the following dietary choices may help prevent amyloidosis in people who are at high risk, or help slow the disease once it has developed:
Additional supplements include:
To help prevent inflammation in general:
Flavonoids are plant compounds that fight damage from stress, oxidation, and inflammation. They may be useful as a supportive therapy to standard medical care in treating amyloidosis:
Most people with AL die within 2 years of diagnosis, usually of heart failure, uremia (toxic buildup of wastes in the blood), or other complications. About 20% survive 5 years or longer. With AA, most people survive 5 - 10 years after their condition surfaces. Survival depends on how well the underlying condition is treated. In hereditary amyloidosis, the outlook varies depending on the type of gene mutation and when the condition is diagnosed. Some people survive as long as 15 years after the disease develops.
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.
Beers MH, Porter R, eds. The Merck Manual of Diagnosis and Therapy. 18th ed. Whitehouse Station, NJ: Merck Research Laboratories; 2006:1310-12.
Buxbaum J. Treatment and prevention of the amyloidoses: can the lessons learned by applied to sporadic inclusion-body myositis? Neurology. 2006;66(2 Suppl 1):S110-3.
Falk RH, Skinner M. The systemic amyloidoses: an overview. Adv Intern Med. 2000;45:107-137.
Ferri: Ferri's Clinical Advisor 2011, 1st ed. St. Lousi, MO. Mosby; 2010.
Firestein: Kelley's Textbook of Rheumatology, 8th ed. Philadelphia, PA: Saunders Elsevier; 2008.
Goldman L. Inherited and metabolic hepatic disorders. Cecil Textbook of Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2008:1436-7;2083-7.
Hoffman: Hematology: Basic Principles and Practice, 5th ed. Philadelphia, PA. Elsevier Inc.; 2008.
Kholova I, Kautzner J. Current treatment in cardiac amyloidosis. Curr Treat Options Cardiovasc Med. 2006;8(6):468-73.
Lebrazi H, Hachulla E, Saile R. Treatments for amyloidosis beyond symptomatic care [in French]. Rev Med Interne. 2000;21(3):247-255.
Lim GP, Calon F, Morihara T, Yang F, Teter B, Ubeda O, Salem N Jr, Frautschy SA, Cole GM. A diet enriched with the omega-3 fatty acid docosahexaenoic acid reduces amyloid burden in an aged Alzheimer mouse model. J Neurosci. 2005 Mar 23;25(12):3032-40.
Liu F, Lau BH, Peng Q, Shah V. Pycnogenol protects vascular endothelial cells from beta-amyloid-induced injury. Biol Pharm Bull. 2000;23(6):735-737.
Maneti L, Tansinda P, Vaglio A. Eprodisate in amyloid A amyloidosis: a novel therapeutic approach? Expert Opin Pharmacother. 2008;9(12):2175-80.
Morena M, Cristol J, Canaud B. Why hemodialysis patients are in a prooxidant state? What could be done to correct the pro/antioxidant imbalance. Blood Purif. 2000;18(3):191-199.
Pettersson T, Konttinen YT, Maury CP. Treatment strategies for amyloid A amyloidosis. Expert Opin Pharmacother. 2008;9(12):2117-28.
Sezer O, Eucker J, Schmid P, Possinger K. New therapeutic approaches in primary systemic AL amyloidosis. Ann Hematol. 2000;79(1):1-6.
Sideras K, Gertz MA. Amyloidosis. Adv Clin Chem. 2009;47:1-44.
Stankovic K, Grateau G. Amyloidosis AA. Nephrol Ther. 2008;4(4):281-7.
Wettstein A. Cholinesterase inhibitors and ginkgo extracts -- are they comparable in the treatment of dementia? Phytomedicine. 2000;6(6):393-401.
Zubkov A, Rabinstein A, Dispenzieri A, Wijdicks E. Primary systemic amyloidosis with ischemic stroke as presenting complication. Neurology. 2007;69(11):1136-41.
© 2011 University of Maryland Medical Center (UMMC). All rights reserved.
UMMC is a member of the University of Maryland Medical System,
22 S. Greene Street, Baltimore, MD 21201. TDD: 1-800-735-2258 or 1.866.408.6885