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Polycythemia Vera

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
  • polycythemia rubra vera
  • primary polycythemia
  • splenomegalic polycythemia
  • Vaquez-Osler disease

Disorder Subdivisions

  • None

General Discussion

Summary

Polycythemia vera is a rare, chronic disorder involving the overproduction of blood cells in the bone marrow (myeloproliferation). The overproduction of red blood cells is most dramatic, but the production of white blood cells and platelets are also elevated in most cases. Since red blood cells are overproduced in the marrow, this leads to abnormally high numbers of circulating red blood cells (red blood mass) within the blood. Consequently, the blood thickens and increases in volume, a condition called hyperviscosity. Thickened blood may not flow through smaller blood vessels properly. A variety of symptoms can occur in individuals with polycythemia vera including nonspecific symptoms such as headaches, fatigue, weakness, dizziness or itchy skin; an enlarged spleen (splenomegaly); a variety of gastrointestinal issues; and the risk of blood clot formation, which may prevent blood flow to vital organs. More than 90 percent of individuals with polycythemia vera have a mutation of the JAK2 gene. The exact role that this mutation plays in the development of polycythemia vera is not yet known.



Introduction

Polycythemia vera was first reported in the medical literature in 1892. The term "myeloproliferative disorder" (MPD) was first used to described polycythemia vera and related disorders in 1951. In 2008, the World Health Organization reclassified MPDs to "myeloproliferative neoplasms" (MPNs) to reflect the consensus that these diseases are blood cancers (neoplasms).



This group of disorders is characterized by the overproduction (proliferation) of one or more of the three main blood cell lines - red or white blood cells or platelets. Red blood cells carry oxygen to the body. White blood cells fight infection. Platelets are involved in clotting of the blood in response to injury. Three other disorders are commonly classified as MPNs: chronic myeloid leukemia, essential thrombocythemia and idiopathic myelofibrosis. Because MPNs are characterized by uncontrolled cell growth, they may also be classified as blood cancers.

Resources

Leukemia & Lymphoma Society

1311 Mamaroneck Avenue

Suite 310

White Plains, NY 10605

Tel: (914)949-5213

Fax: (914)949-6691

Tel: (800)955-4572

Email: infocenter@LLS.org

Internet: http://www.LLS.org



NIH/National Heart, Lung and Blood Institute

P.O. Box 30105

Bethesda, MD 20892-0105

Tel: (301)592-8573

Fax: (301)251-1223

Email: nhlbiinfo@rover.nhlbi.nih.gov

Internet: http://www.nhlbi.nih.gov/



National Cancer Institute

6116 Executive Blvd Suite 300

Bethesda, MD 20892-8322

USA

Tel: (301)435-3848

Tel: (800)422-6237

TDD: (800)332-8615

Email: cancergovstaff@mail.nih.gov

Internet: http://www.cancer.gov



Rare Cancer Alliance

1649 North Pacana Way

Green Valley, AZ 85614

USA

Internet: http://www.rare-cancer.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Myeloproliferative Disease Support and Daily Email Digest

2011 Flagler Ave.

Key West, FL 33040

USA

Tel: (305)295-4444

Email: roberttollen@gmail.com

Internet: http://www.mpdsupport.org/



MPN Research Foundation

180 N. Michigan Avenue, Suite 1870

Chicago, IL 60601

Tel: (312)683-7249

Fax: (312)332-0840

Email: mwoerhle@MPNResearchFoundation.org

Internet: http://www.mpnresearchfoundation.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. 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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  5/8/2013

Copyright  1986, 1990, 1994, 1995, 1997, 1998, 2005, 2008, 2011, 2013 National Organization for Rare Disorders, Inc.

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