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Polycythemia Vera [Synonyms] [ Disorder Subdivisions] [ General Discussion] [Symptoms] [Causes] [Affected Population] [Related Disorders] [Standard Therapies] [Investigational Therapies] [Resources] [References] Copyright (C) 1986, 1990, 1994, 1995, 1997, 1998 National Organization for Rare Disorders, Inc. **IMPORTANT** It is possible that the main title of the report (Polycythemia Vera) is not the name you expected. Please check the SYNONYMS listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Erythremia Osler-Vaquez Disease Primary Polycythemia Splenomegalic Polycythemia Vaquez-Osler Disease Polycythemia Rubra Vera Disorder Subdivisions:

Information on the following diseases can be found in the Related Disorders section of this report: Leukemia

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 detailed information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section this report. Polycythemia vera is a rare chronic myeloproliferative disorder characterized by overproduction of red blood cells and elements of the bone marrow involved in the formation of red blood cells (hematopoietic elements). In most cases, affected individuals may experience headaches, weakness, dizziness (vertigo), and/or a ringing noise in the ear (tinnitus). In some cases, individuals with polycythemia vera experience itching (pruritis), especially after a hot bath. Affected individuals often have an abnormally enlarged spleen

(splenomegaly) and/or liver (hepatomegaly). In some cases, affected individuals may have associated conditions including high blood pressure (hypertension), the formation of blood clots (thrombosis), rupturing of and loss of blood (hemorrhaging) from certain blood vessels, and/or Budd-Chiari Syndrome, a rare disorder characterized by obstruction (occlusion) of veins of the liver (hepatic veins). The exact cause of polycythemia vera is not known. . Symptoms The symptoms and physical findings associated with polycythemia vera vary greatly from case to case. Affected individuals may experience fatigue, difficulty concentrating, headaches, drowsiness, forgetfulness, dizziness (vertigo), and ringing in the ears (tinnitus). Affected individuals may also experience redness of the skin and, in 50 percent of cases, abnormal itchiness (pruritis), particularly after a hot bath. In some cases, affected individuals have an abnormally enlarged spleen (splenomegaly) and/or liver (hepatomegaly). Individuals with polycythemia vera may have other complications including high blood pressure (hypertension), the formation of blood clots (thrombosis), and/or rupturing of and loss of blood (hemorrhaging) from certain blood vessels. If left untreated, thrombosis may involve the liver, heart, lungs, and/or brain. In come cases, polycythemia vera may be associated with Budd-Chiari Syndrome, a rare disorder characterized by narrowing and obstruction (occlusion) of the veins of the liver (hepatic veins). Symptoms associated with Budd Chiari Syndrome include pain in the upper right part of the abdomen, an abnormally large liver (hepatomegaly), and/or accumulation of fluid in the space (peritoneal cavity) between the two layers of the membrane that lines the stomach (ascites). (For more information on this disorder, choose "Budd Chiari" as your search term in the Rare Disease Database). Causes The exact cause of polycythemia vera is not known. The symptoms and physical findings associated with this disorder result from the overproduction of circulating red blood cells (erythrocytosis). Affected Population Polycythemia vera is a rare disorder that affects males slightly more often than females (M1.2: F1). There is disagreement in the medical literature as to the prevalence of polycythemia vera in the general population. One estimate placed the number at 5-17 cases per 1 million in western Europe and the United States. Polycythemia vera was first described in the medical literature in 1892 (H. Vaquez). Related Disorders Leukemia is a generalized cancerous (neoplastic) disorder of the blood forming tissues, primarily of the white blood cell (leukocytic) type.

Standard Therapies The most common therapy for polycythemia vera is removal of some blood from a vein (phlebotomy). This does not depress marrow function nor does it induce genetic mutation. Iron-deficiency anemia usually develops following repeated phlebotomy. Phlebotomy is less effective in patients with high iron absorption rates or greatly elevated platelet counts, and is inconvenient in patients with poor veins. Usually 3 to 6 phlebotomies are required to reduce the percentage of red blood cell volume in the blood (Hct) to less than 50 percent, returning the red blood cell number to normal. Elderly patients with advanced arteriosclerosis or a heart condition should have less blood removed at each phlebotomy. When phlebotomy is the only therapy, supplemental iron must not be prescribed since it tends to accelerate hemoglobin production. A low-iron diet is often impractical, but foods with very high iron content, such as clams, oysters, liver and legumes, should be avoided. Phlebotomy followed radiophosphorus (32P) therapy, produces clinical and hematologic remission in almost all patients. Remissions usually last 18 months, but vary from 6 months to several years. Fewer follow-up visits are often required and there are usually no immediate side effects. However, approximately 10 percent of patients treated with 32P develop acute leukemia, but this usually occurs after more than 10 years of treatment. Chemotherapy for polycythemia vera is no longer advised because it increases the risk of developing acute leukemia. An excess of uric acid in the blood (hyperuricemia) requires treatment with the drug allopurinol. Acute gouty arthritis can develop and it is treated in the same manner as primary gout; i.e., with colchicine or nonsteroidal anti-inflammatory drugs for patients who are intolerant of colchicine. Corticosteroids can produce rapid and complete remission in some patients, but generally are used only when other drugs are ineffective. Investigational Therapies The FDA allows the use of the orphan drug Anagrelide for polycythemia vera on an experimental or investigational basis. This drug is manufactured by: Roberts Pharmaceutical Corporation Meridian Center III 6-G Industrial Way West Eatontown, NJ 07724 (908) 389-1182 or (800) 752-4255 Recombinant interferon alfa is being investigated for the treatment of polycythemia vera. More studies are needed to determine the long-term safety and effectiveness of this treatment. This disease entry is based upon medical information available through December 1998.

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 Polycythemia Vera, please contact: National Organization for Rare Disorders, Inc.(NORD) P.O. Box 8923 New Fairfield, CT 06812-8923 Telephone: (203) 746-6518 Fax: (203) 746-6481 Toll free: (800) 999-6673 TDD: (203) 746-6927 e-mail: orphan@nord-rdb.com Home Page: http://www.nord-rdb.com/~orphan NIH/National Heart, Lung and Blood Institute 31 Center Drive MSC 2480 Building 31A Rm 4A16 Bethesda, MD 20892--2480 (301) 594-1348 Home Page: http://www.nhlbi.nih.gov/nhlbi/nhlbi.htm

References HARRISON'S PRINCIPLES OF INTERNAL MEDICINE, 14th Ed.: Anthony S. Fauci, M.D. et al., Editors; McGraw-Hill, Inc., 1998. Pp. 679-81. HEMATOLOGY BASIC PRINCIPLES AND PRACTICE, 2nd Ed.: Ronald Hoffman M.D., et. al., Editors; Churchill-Livingstone, Inc., 1995. Pp. 1121-38. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1138. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. Pp. 973, 980-4. A NEW TREATMENT FOR POLYCYTHEMIA VERA: RECOMBINANT INTERFERON ALPHA. R.T. Silver; Blood (August 15, 1990, issue 76 (4)). Pp. 664-5. AR Moliterno et al. Signal transmission in platelets from patients with polycythemia vera.

New Eng J Med. 1998;339:127-128.
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