(Amyloid; Primary Amyloid; Secondary Amyloid; Hereditary Amyloid)
Amyloidosis is a group of rare diseases. It involves deposits of a protein called amyloid. These proteins build up in body tissues and organs.
There are three major forms:
- Primary amyloidosis—found in the heart, lungs, skin, tongue, thyroid gland, intestines, liver, kidneys, and blood vessels
- Secondary amyloidosis—found in the spleen, liver, kidneys, adrenal glands, and lymph nodes
- Hereditary amyloidosis—found in the nerves, heart, blood vessels, and kidneys
The build up of amyloid can make it difficult for the organ or tissue to function. These conditions are serious. They require care from your doctor.
The causes of vary in its different forms.
Primary amyloidosis—caused by the deposit of antibody fragments
- Associated bone marrow disorders (eg, multiple myeloma]]> —cancer of the plasma cells)
- Secondary amyloidosis—develops in response to chronic infection or inflammatory disease
- Hereditary amyloidosis—caused by mutations of amyloid in the blood
The following factors increase your chance of developing amyloidosis:
- Sex—men are at greater risk
- Age—older than 40
- Multiple myeloma
- Sex—men are at greater risk
- Age—older than 40
- Underlying chronic inflammatory or infectious diseases such as
- History of Mediterranean fever
- ]]>Hemodialysis]]> —removal of blood from the arteries, cleansing it, adding nutrients, and returning it to the veins
- Family history
- Ethnicity: Portuguese, Swedish, Japanese
- Familial Mediterranean fever
If you experience one or more of these, contact your doctor.
Symptoms for all forms of amyloidosis
- Weight loss
- Enlarged liver
- Enlarged spleen
- Signs of heart failure]]>
- ]]>Kidney failure]]>
- Easy bruising
- Skin purpura (purplish skin around the eyes caused by small blood vessels leaking into the skin)
- Enlarged lymph nodes
- Enlarged thyroid gland
- Swallowing difficulties
- Enlarged tongue
- Enlarged liver
- Intestinal obstruction
- Malabsorption (inadequate absorption of nutrients from the intestinal tract)
- Clay colored stools
- Neurologic system
- Fluid accumulation in the tissues, causing swelling (edema)
- Abnormal heart rhythm (arrhythmia)
- Enlarged heart
- Heart failure
- Sudden death
- Respiratory system
- Difficulty breathing
- Shortness of breath
Edema in Lower Legs
This condition can be difficult to diagnose. Underlying conditions may be fatal before it is found.
Your doctor will ask about your symptoms and medical history. A physical exam will be done. The doctor may refer you to see specialists.
Tests may include the following:
- Biopsy]]> —removes a small sample of tissue or organ, either by needle or incision
- ]]>Electrocardiogram (ECG)]]> —a measure of the electrical activity of the heart to diagnose heart disease
- ]]>Echocardiogram]]> —a detailed, moving image of your heart using high frequency sound waves
- Kidney function evaluation—determines if there is excess protein in the urine
- Urinalysis—chemically and microscopically examines urine for disease
- Serum creatinine—blood test to measure kidney function and muscle mass
- Blood urea nitrogen (BUN) levels—blood test to measure kidney function
- ]]>Abdominal ultrasound]]> —a test that uses sound waves to examine internal organs and blood vessels for abnormalities
- Nerve conduction velocity—evaluates the condition of the nerves
There is no cure for any form. The main goal is to treat an underlying condition. Treatment to decrease or control symptoms and complications has been only modestly successful. Talk with your doctor about the best plan for you. Treatment options include:
Chemotherapy]]> is the use of a series of drugs. It may be given by pill, injection, or via a catheter. In this case it is used to help improve symptoms and slow the progression of the disease. It is used in:
Stem Cell Transplantation
Stem cells are immature cells. They are transplanted to replace damaged or diseased cells. This process is used in:
Primary Amyloidodis—Your own immature blood cells are transfused. This process is called autologous stem cell transplant. Drugs which are often used include:
- Hereditary Amyloidodis—Cells are transplanted from a donor body.
This is the removal of a diseased organ and transfer of a healthy donor organ to the recipient. In these cases it is the liver or kidney. It may be done in all major forms of amyloidosis.
This is the removal of the spleen. It’s removal can decrease the production of amyloid. It may be done for:
- Primary amyloidodis
- Secondary amyloidosis
The Following Are Broad Treatments Used in All Forms of Amyloidosis
- Diuretics—to rid your body of excess fluid
- Steroids—to relieve inflammatory process
Special diets may be given. The diet will depend on the organ(s) affected and related complications.
- Treatment to relieve pain and suffering from progressively fatal complications
Amyloidosis Support Groups
Amyloidosis Support Network
Familydoctor.org, American Academy of Family Physicians
Canadian Organization for Rare Disorders
The Kidney Foundation of Canada
Amyloidosis. Amyloidosis Support Network. Available at: http://www.amyloidosis.org/ . Accessed September 15, 2005.
Amyloidosis. MedlinePlus Medical Encyclopedia, National Institute of Health & National Library of Medicine website. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/000533.htm . Accessed September 13, 2005.
Dambro MR. Griffith's 5-Minute Clinical Consult. Philadelphia, PA: Lippincott Williams & Wilkins; 2001.
Diseases and conditions A-Z. Mayo Clinic website. Available at: http://www.mayoclinic.com/findinformation/diseasesandconditions/index.cfm . Accessed September 15, 2005.
Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med. 2003; 349:583.
Special subjects amyloidosis. Merck Manual, 2nd Home Online Edition website. Available at: http://www.mercksource.com/pp/us/cns/cns_merckmanual_frameset.jsp . Accessed September 14, 2005.
Special subjects “amyloidosis.” Merck Manual, 17th Edition Centennial Online Edition website. Available at: http://80-online-statrefcom.ezproxy.library.tufts.edu/Document.aspx?DocId=87&FxId=21&SessionId=5353B6FTZGIRXSNW&Scroll=1&Index=0 . Accessed September 13, 2005.
Westermark, P, Benson, MD, Buxbaum, JN, et al. Amyloid: toward terminology clarification. Report from the Nomenclature Committee of the International Society of Amyloidosis. Amyloid 2005; 12:1.
Last reviewed January 2009 by ]]>Igor Puzanov, MD]]>
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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