Thrombocytopenia, Essential

Thrombocytopenia, Essential

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Thrombocytopenia, Essential 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

  • TTP

Disorder Subdivisions

  • Idiopathic Thrombocytopenic Purpura
  • ITP
  • Werlhof's Disease
  • Purpura Hemorrhagica
  • Thrombotic Thrombocytopenic Purpura
  • Moschowitz Disease, Essential
  • Hemolytic-Uremic Syndrome
  • HUS

General Discussion

Essential thrombocytopenia is a rare blood disease characterized by reduced levels of platelets in the circulating blood. Platelets are essential to blood-clotting and, if they are in short supply, bleeding may occur that can become life-threatening. The platelets are produced in the bone marrow and may be in reduced supply because of (1) impaired or reduced platelet production in the marrow, (2) increased destruction of platelets faster than they can be replaced by the marrow, or (3) the presence of one of several genetic disorders. There are also false thrombocytopenias. Major symptoms include a tendency to bleed excessively into the skin or mucous membranes, especially during menstruation, nosebleeds and bleeding gums.

Symptoms

Some people affected by essential thrombocytopenia exhibit no symptoms at all. In those cases, the diagnosis is usually made as a result of routine blood testing. The major symptom of essential thrombocytopenia is excessive bleeding. In the mildest cases, flat red spots (petechiae) that are pinpoint in size are noticed, usually around the feet and ankles. With more serious disease, the spots are larger and more widespread. There is a tendency toward sudden nosebleeds and easy bruising. In severe cases, bleeding (hemorrhages) under the skin (purpura) may involve the skin surface, the eyes and mucous membranes of the mouth. In the most serious cases, intracranial hemorrhage may occur. As a result of uncontrolled excessive bleeding, anemia may develop producing weakness, fatigue and signs of congestive heart failure.

Causes

There are three major causes of thrombocytopenia: Low production of the platelets in the bone marrow; increased breakdown of platelets in the bloodstream (intravascular); and increased breakdown of platelets in the spleen or liver (extravascular).



In addition, some clinicians recognize an inherited form of essential thrombocytopenia as a distinct, X-linked genetic disorder. Others suggest that this form is really a variant of the Wiscott-Aldrich syndrome.



Disorders associated with low production of platelets in the bone marrow include aplastic anemia, cancer of the bone marrow, and, rarely, infections of the bone marrow. Rare as well is thrombocytopenia as a result of the ingestion of medications or drugs.



Disorders associated with the breakdown of platelets faster than they may be replaced include immune thrombocytopenic purpura, drug-induced immune thrombocytopenia, drug-induced non-immune thrombocytopenia, thrombotic thrombocytopenic purpura, primary thrombocythemia, disseminated intravascular coagulation, and an enlarged spleen (hypersplenism).



Some of the disorders that cause an increase in the destruction of the platelets are immune disorders in which the patient's own blood production system attacks itself as if it were a foreign body. Autoimmune disorders are caused when the body's natural defenses against "foreign" or invading organisms (e.g., antibodies) begin to attack healthy tissue for unknown reasons. Some cases may be linked to abnormal reactions by blood cells (serum antibodies) to a thyroid protein (thyroglobulin), organ wall (parietal) cells, adrenal or thyroid cells.



Some of the disorders that cause an increase in the destruction of the platelets are immune disorders in which the patient's own blood production system attacks itself as if it were a foreign body. Autoimmune disorders are caused when the body's natural defenses against "foreign" or invading organisms (e.g., antibodies) begin to attack healthy tissue for unknown reasons. Some cases may be linked to abnormal reactions by blood cells (serum antibodies) to a thyroid protein (thyroglobulin), organ wall (parietal) cells, adrenal or thyroid cells.



False thrombocytopenias may be caused by clotting of the blood or by an immune reaction that leads to clumped platelets that generate low readings of the concentration of platelets.



Congenital thrombocytopenia may be a consequence of a rare genetic disorder such as May Hegglin anomaly, Wiscott-Aldrich syndrome, or Bernard Soulier syndrome.



Defective platelet production may be the result of a failure of bone marrow (aplasia), metabolic disorders such as vitamin B12 deficiency, abnormal bone marrow (preleukemia), or infiltration of the bone marrow (leukemia, lymphoma, myeloma, marble bone disease).

Affected Populations

Thrombocytopenia seems to affect males and females in equal numbers. The type of thrombocytopenia known as idiopathic or immune thrombocytopenic purpura (ITP) affects an estimated 100,000-150,000 individuals per year, including ten percent of people affected with HIV.

Standard Therapies

Diagnosis

A thorough physical and history may suggest the presence of reduced platelets, at which time several complete blood counts may be performed. A sample of bone marrow may also be taken for further analysis to determine whether the platelet production is normal.



Treatment

Thrombocytopenia is treated by transfusions of normal platelets to control bleeding. When platelet dysfunction is associated with an acquired disorder, successful treatment of the underlying disease often results in improved platelet function. Drugs known to inhibit platelet function, such as those containing aspirin and anti-inflammatory agents, should be avoided. Intravenous (IV) immune globulin may be given to increase platelet production. In rare cases, thrombocytopenia may necessitate the removal of the spleen (splenectomy).



The drug anagrelide (Agrylin) has been approved by the FDA for the treatment of essential thrombocytopenia. Anagrelide is manufactured by Roberts Pharmaceutical Corporation.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.



For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:920-25.



Berkow R., ed. The Merck Manual-Home Edition.2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003:997-99.



Fauci AS, Braunwald E, Isselbacher KJ, et al., eds. Harrison's Principles of Internal Medicine. 14th ed.McGraw-Hill Companies. New York, NY; 1998:730-31.



JOURNAL ARTICLES

Bartholomew JR, Begelman SM, Almahameed A. Heparin-induced thrombocytopenia: principles for early recognition and management. Cleve Clin J Med. 2005;72 Suppl 1:S31-36.



Lakasing L, Williamson C. Obstetric complications due to autoantibodies. Best Pract Res Clin Endocrinol Metab. 2005;19:149-75.



Paparella D, Galeone A, Micelli M, et al. Early onset of heparin-induced thrombocytopenia with thrombosis after open heart surgery: importance of an early diagnosis and Lepirudin treatment. Blood Coagul Fibrinolysis. 2004;15:183-85.



Drews RE. Critical issues in hematology: anemia, thrombocytopenia, coagulopathy, and blood product transfusions in critically ill patients. Clin Chest Med. 2003;24:607-22.



Balduini CL, Cattaneo M, Fabris F, et al. Inherited thrombocytopenias: a proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine. Haematologica. 2003;88:582-92.



Choudry VP. Platelet therapy. Indian J Pediatr. 2002;69:911-28.



Arzoo K, Sadeghi S, Liebman HA. Treatment of refractory antibody mediated autoimmune disorders with an anti-CD20 monoclonal antibody (rituximab). Ann Rheum Dis. 2002;61:922



FROM THE INTERNET

Grund S. Thrombocytopenia. Medical Encyclopedia. MedlinePlus. Update date: 8/12/2004. 2pp.

www.nlm.nih.gov/medlineplus/ency/article/000586.htm



Essential Thrombocytopenia. Chronic Myeloproliferative Disorders (PDQ®): Treatment. National cancer Institute. nd. 2pp.

www.cancer.gov/cancertopics/pdq/treatment/myeloproliferative/Patient/page5

Resources

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/



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/



For a Complete Report

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