$Unique_ID{BRK03637} $Pretitle{} $Title{Cryoglobulinemia, Essential Mixed} $Subject{Cryoglobulinemia Essential Mixed EMC Raynaud's Disease and Phenomenon Purpura Vasculitis Wegener's Granulomatosis} $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 910: Cryoglobulinemia, Essential Mixed ** IMPORTANT ** It is possible that the main title of the article (Essential Mixed Cryoglobulinemia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms EMC Information on the following diseases can be found in the Related Disorders section of this report: Raynaud's Disease and Phenomenon Purpura Vasculitis Wegener's Granulomatosis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Essential Mixed Cryoglobulinemia is a rare autoimmune disorder that affects the blood and various other body systems. Major symptoms may include unusual response to cold, skin abnormalities, weakness and blood problems. There may also be joint pain, inflamed blood vessels and kidney problems. Symptoms Essential Mixed Cryoglobulinemia is characterized by extreme physical reactions to cold such as loss of feeling in the hands or feet. In people with this disorder, blood becomes thicker when they are is exposed to cold. Brown spots may appear under the skin. The kidneys may become inflamed and produce unusual levels of protein or even blood in the urine. There may also be arthritis type joint pain, weakness and even central nervous system problems. Gastrointestinal symptoms usually occur and the liver and spleen may be affected. Problems in the intestines and colon may cause chronic diarrhea. Causes The exact cause of Essential Mixed Cryoglobulinemia is not known. However, it is considered to be an autoimmune disorder. (Autoimmune disorders are caused when the body's natural defenses such as antibodies, lymphocytes, etc.) against invading organisms mistakenly attack healthy tissue. In this condition the immune system appears to be triggered by cold temperatures. Cryoglobulins are proteins in the blood that become apparent when the blood is cooled. These Cryoglobulins can affect many different bodily systems causing dysfunction. Affected Population Essential Mixed Cryoglobulinemia is a rare autoimmune disorder that can affect many body functions; however, it is usually not apparent until middle age and it affects females more often than males. Related Disorders Symptoms of the following disorders can be similar to those of Essential Mixed Cryoglobulinemia. Comparisons may be useful for a differential diagnosis: Raynaud's Disease and Phenomenon are vascular disorders. They are caused by spasms of blood vessels when a person is exposed to either hot or cold temperatures. Symptoms occur more often in cold temperatures than in hot weather, and can also be triggered by emotional upset. Patients may experience sensory changes such as aching pain, a tingling feeling or throbbing in fingers or toes when exposed to extreme temperatures. There may be the sensation of tightness or pins and needles. The feeling of coldness or numbness and a loss of color or turning blue may also occur. (For more information on this disorder, choose "Raynaud" as your search term in the Rare Disease Database). Purpura means a red or purple color of the skin. It results from the fusion of blood and plasma into surfaces under the skin, mucous membranes and serous membranes. Purpura is the most common symptom of a vascular bleeding disorder which is characterized by increased bruising and fragile blood vessels. It can be caused by inflammation of the blood vessels affecting the skin, joints, gastrointestinal system and kidneys. (For more information on this disorder, choose "Purpura" as your search term in the Rare Disease Database). Vasculitis is a common disorder characterized by an inflammation of the blood vessel walls. Arteries and veins of all sizes and in all parts of the body may be affected. Depending on the system involved there may be muscle pain, joint pain, fever, weight loss, loss of appetite, headache, or generalized weakness. The skin, eyes, stomach and kidneys may be affected. (For more information on this disorder, choose "Vasculitis" as your search term in the Rare Disease Database). Wegener's Granulomatosis is a rare collagen vascular disorder that begins as a localized inflammation of the mucous membranes in the upper and lower respiratory tract and usually progresses into generalized inflammation of the blood vessels and kidneys. (For more information on this disorder, choose "Wegener" as your search term in the Rare Disease Database). Therapies: Standard Protecting the patient from cold temperatures is a necessary preventive measure for people with Essential Mixed Cryoglobulinemia. Treatment of Essential Mixed Cryoglobulinemia usually consists of combinations of drugs including steroids and cyclophosphamide. These drugs can alter the immune system and alleviate symptoms in many cases. Plasmapheresis is a procedure used for removing unwanted substances such as toxins and plasma parts from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is transfused back into the patient. Cryoblobulins can be removed from the patient's blood by cooling the blood serum during Plasmapheresis. Cryofiltration is another form of treatment that can remove the cryoblobulins from the blood without the need of plasma replacement. Therapies: Investigational This disease entry is based upon medical information available through May 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Essential Mixed Cryoglobulinemia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 203 746-6518 NIH/National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301)496-4236 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. P. 601. HEMATOLOGY, 4th Ed,: William J. Williams, et al,; Editors; McGraw-Hill, Inc., 1990. P. 1437. THE KIDNEY, 4th Ed.; Barry M. Brenner, M.D. and Floyd C. Rector, Jr., M.D., Editors; W.B. Saunders Company, 1991. Pp. 1311-1312. CHRONIC DIARRHEA IN ESSENTIAL MIXED CRYOGLOBULINEMIA: A MANIFESTATION OF VISCERAL VASCULITIS?, Jones, MP., et al.; Am J Gastroenterol, April, 1991, (issue 86 (4)). Pp. 522-524. RAPID IMPROVEMENT IN A PATIENT WITH LEUKOCYTOCLASTIC VASCULITIS WITH SECONDARY MIXED CRYOGLOBULINEMIA TREATED WITH CRYOFILTRATION., Sawada, K., et al.; J Rheumatol, January, 1991, (issue (1)). Pp. 91-94.