Amyloidosis (Amyloid, Primary Amyloid, Secondary Amyloid, Hereditary Amyloid)

The following factors increase your chance of developing amyloidosis: Primary amyloidosis Sexmen are at greater risk Ageolder than 40 Multiple myeloma Secondary amyloidosis Sexmen are at greater risk Ageolder than 40 Underlying chronic inflammatory or infectious diseases such as Tuberculosis Rheumatoid arthritis Osteomyelitis (bone infection) History of Mediterranean fever Hemodialysis removal of blood from the arteries, cleansing it, adding nutrients, and returning it to the veins Family history Hereditary amyloidosis Ethnicity: Portuguese, Swedish, Japanese Familial Mediterranean fever Symptoms If you experience one or more of these symptoms, contact your doctor for a complete physical examination. Symptoms for all forms of amyloidosis Fatigue Weight loss Enlarged liver Enlarged spleen Signs of heart failure Symptoms can be none to several and mild to severe, depending on the extent of the disease and the type of organ affected. The following is a list of additional symptoms as they relate to specific body systems: Urinary tract Kidney failure Skin Easy bruising Skin purpura (purplish skin around the eyes caused by small blood vessels leaking into the skin) Lymphatic system Enlarged lymph nodes Endocrine system Enlarged thyroid gland Digestive System Swallowing difficulties Enlarged tongue Enlarged liver Diarrhea Intestinal obstruction Malabsorption (inadequate absorption of nutrients from the intestinal tract) Clay colored stools Neurologic system Dementia possible link to development of Alzheimers disease Numbness, tingling, weakness in hands and feet Swelling of nerves in the wrist Weak hand grip Cardiovascular 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

Diagnosis Amyloidosis can be difficult to recognize because it produces so many complications. Underlying conditions may be fatal before amyloidosis is either suspected or diagnosed. Your doctor will ask about your symptoms and medical history and perform a physical exam. Depending on your symptoms and his findings, the doctor may refer you to see one or many different specialists. Tests may include the following: Biopsy removes a small sample of tissue or organ, either by needle or incision. Electrocardiogram (ECG) measures the electrical activity of the heart to diagnose heart disease Echocardiogram creates a detailed, moving image of your heart using high frequency sound waves Kidney function evaluationdetermines if there is excess protein in the urine Urinalysischemically and microscopically examines urine for disease Serum creatinineblood 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 velocityevaluates the condition of the nerves Treatment There is no cure for any form of amyloidosis. The main consideration is to treat an underlying condition. Treatment to decrease or control symptoms and complications of amyloidosis has been only modestly successful. Talk with your doctor about the best treatment plan for you. Treatment options include:

Primary Amyloidosis Treatment may include: Chemotherapy Autologous stem cell transplantationthe process of transfusing ones own immature blood cells to replace diseased or damaged cells. Drugs which are often used include: Melphalan Prednisone Thalidomide Colchicine Organ transplantationremoval of a diseased organ (liver or kidney) and transfer of a healthy donor organ (liver or kidney) to the recipient. Splenectomy removal of the spleen to decrease the production of amyloid. Secondary Amyloidosis Treatment may include: ChemotherapyAggressive treatment of the underlying inflammatory process or disease to improve symptoms and/or slow progression of the disease; drugs which are often used include: Melphalan Prednisone Thalidomide Colchicine Organ transplantationremoval of a diseased organ (liver or kidney) and transfer of a healthy donor organ (liver or kidney) to the recipient. Splenectomy removal of the spleen to decrease the production of amyloid. Hereditary Amyloidosis Treatment may include: Chemotherapythe use of chemicals to treat or control symptoms and/or slow progression of the disease using colchicine. Organ transplantationremoval of a diseased organ (liver or kidney) and transfer of a healthy donor organ (liver or kidney) to the recipient. Stem cell transplantationthe process of transferring cells from a donor body to the recipient (patient). The Following Are Broad Treatments Used in All Forms of Amyloidosis Medications Diureticsto rid your body of excess fluid Steroidsto relieve inflammatory process Lifestyle Special diets depending on the organ(s) affected and resultant complications.

Hospice Treatment to relieve pain and suffering from progressively fatal complications. Prevention There is no known prevention for amyloidosis. RESOURCES: Amyloidosis Support Groups http://www.amyloidosissupport.com/ Amyloidosis Support Network http://www.amyloidosis.org National Institute of Health http://www.nlm.nih.gov/ CANADIAN RESOURCES: BC Health Guide, British Columbia Ministry of Health http://www.bchealthguide.org The Kidney Foundation of Canada http://www.kidney.ab.ca References: 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. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/000533.htm . Accessed September 13, 2005. Dambro MR. Griffith's 5-Minute Clinical Consult. 2001 ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2001. Diseases and conditions A-Z. Mayoclinic.com 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 (1999) 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 Janaury 2008 by Jill D. Landis, 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.