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$Unique_ID{BRK04267}
$Pretitle{}
$Title{Thrombocytopenia, Essential}
$Subject{Thrombocytopenia, Essential Idiopathic Thrombocytopenic Purpura (ITP)
(Werlhof's Disease) Purpura Hemorrhagica Thrombotic Thrombocytopenic Purpura
(TTP)  (Moschowitz Disease) Hemolytic-Uremic Syndrome (HUS) Thrombocytopenia
with Absent Radius Syndrome (TAR) Fanconi's Anemia von Willebrand Disease
May-Hegglin Anomaly Chediak-Higashi Syndrome Kassaback-Merritt Syndrome
Hemophilia}
$Volume{}
$Log{}

Copyright (C) 1988, 1989, 1992 National Organization for Rare Disorders,
Inc.

570:
Thrombocytopenia, Essential

** IMPORTANT **
It is possible that the main title of the article (Essential
Thrombocytopenia) is not the name you expected.  Please check the disorder
subdivisions covered by this article.

Synonyms

DISORDER SUBDIVISIONS

     Idiopathic Thrombocytopenic Purpura (ITP)  (Werlhof's Disease)
     Purpura Hemorrhagica
     Thrombotic Thrombocytopenic Purpura (TTP)  (Moschowitz Disease)
     Hemolytic-Uremic Syndrome (HUS)

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

     Thrombocytopenia with Absent Radius Syndrome (TAR)
     Fanconi's Anemia
     von Willebrand Disease
     May-Hegglin Anomaly
     Chediak-Higashi Syndrome
     Kassaback-Merritt Syndrome
     Hemophilia

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 Thrombocytopenia is a rare blood disease affecting the clotting
factor (platelets) of the blood.  It is characterized by an abnormally low
platelet count and a shorter than normal (ten days) platelet survival time.
Major symptoms include a tendency to bleed excessively into the skin or
mucous membranes, and especially during menstruation.  There are many
different reasons for the development of decreased marrow production or
platelet destruction that causes this disorder.  These can sometimes be
determined by examination of bone marrow.  Other forms of Thrombocytopenia
may be associated with hereditary factors.

Symptoms

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:

Firstly, a decrease in marrow platelet production may occur as a result
of viral infections, drug toxicity (such as drug hypersensitivity),
generalized bone marrow disease, malignant disease, systemic infections or
aplastic anemia.

Secondly, immune Thrombocytopenia which may develop due to autoimmune
destruction of blood platelets when the patients own blood production system
attacks itself as if it were a foreign body.  Autoimmune disorders are caused
when the body's natural defenses against invading organisms (antibodies)
begin to attack healthy tissue.  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.

Idiopathic (cause unknown) thrombocytopenic purpura occurs in children
and adults.  Sometimes the disease is caused by a condition introduced into
the patients body from the outside (alloimmune), such as neonatal purpura and
posttransfusion purpura.

Drug-induced immune thrombocytopenia can result from the use of many
drugs, e.g., thiazide diuretics, quinine, quinidine, chlorothiazide,
hydrocortisone, prednisone, cyclophosphamide, azathioprine, vincristine,
indomethacin, phenylbutazone, tricyclic antidepressants, antihistamines,
phenothiazines or aspirin.

Thrombotic thrombocytopenic purpura (TTP) can be caused by other blood
diseases such as Hemolytic-uremic syndrome (HUD) and Disseminated
intravascular coagulation.

Finally, Thrombocytopenia can be due to enlargement of the spleen
(splenomegaly) and increased destruction of platelets by the spleen
(sequestration).

Affected Population

Thrombocytopenia affects males and females in equal numbers.  Idiopathic
Thrombocytopenic Purpura (ITP) affects an estimated 100,000-150,000
individuals per year, including ten percent of people affected with HIV.

Related Disorders

Symptoms of the following disorders can be similar to those of
Thrombocytopenia.  Comparisons may be useful for a differential diagnosis:

May-Hegglin Anomaly is a hereditary blood condition which consists of
abnormalities of the platelets and certain leukocytes (white blood cells).
Symptoms may or may not be present.  Treatment is often not necessary, and
the prognosis is usually good.  Symptoms include purpura, nosebleeds,
excessive bleeding from the mouth during dental work, headaches and muscular
weakness on one side of the body due to intracranial bleeding.  (For more
information on this disorder, choose "May-Hegglin" as your search term in the
Rare Disease Database).

von Willebrand Disease is a hereditary blood clotting disorder
characterized by prolonged bleeding.  Blood clotting is slowed due to a
deficiency of the von Willebrand factor protein and factor VIII protein (the
factor VIII complex).  Also, platelets do not stick together normally causing
excessively slow clotting time.  Increased risk of excessive bleeding
following surgery, dental procedures or injury occurs in patients with this
disorder.  With proper treatment and appropriate precautions, few patients
become seriously handicapped by von Willebrand Disease.  The tendency to
prolonged bleeding usually decreases with age.  (For more information on this
disorder, choose "von Willebrand" as your search term in the Rare Disease
Database).

Fanconi's Anemia is a rare form of familial aplastic anemia found chiefly
in children.  It is characterized by bone abnormalities, microcephaly,
hypongenitalism and brown pigmentation of the skin.  Complications include
infections such as pneumonia and meningitis, hemorrhages, and leukemia.
Other malignancies also may occur.  It is first recognized by the tendency of
the patient to bruise more easily than would normally be expected.  It is
more common in males and is usually detected within the first eight years of
life.  Growth may be slowed or stunted.  (For more information on this
disorder, choose "Fanconi" as your search term in the Rare Disease Database).

Chediak-Higashi Syndrome is a rare form of albinism characterized by
decreased pigmentation, ocular problems, white blood cell abnormalities and
increased susceptibility to infections and certain cancers.  It is usually
diagnosed in early infancy because of the partial albinism, (lack of pigment
in the eyes, hair, and skin).  White blood cells are reduced in number;
neutrophils as well as lymphocytes are affected.  Defects and deficiencies of
these cells, which normally provide defense against foreign organisms such as
bacteria, result in frequent infections accompanied by high fever.
Thrombocytes, or platelets, are also reduced in number resulting in a
tendency to bleed excessively upon injury and to bruise easily.  (For more
information on this disorder, choose "Chediak-Higashi" as your search term in
the Rare Disease Database).

Kasabach-Merritt Syndrome causes some patients to have eye and skin
hemorrhages.  Often large tumors appear containing blood (hemangioma) at
various sites on the body, and features of thrombocytopenic purpura appear in
the skin.  (For more information on this disorder, choose "Kasabach-Merritt"
as your search term in the Rare Disease Database).

Hemophilia is a hereditary blood clotting disorder which affects males
almost exclusively.  Hemophilia is caused by the inactivity of one of the
blood proteins necessary (Factor VIII) for clotting, and can be classified by
its level of severity; mild, moderate, and severe.  Severity is determined by
the percentage of active clotting factor in the blood.  Persons with severe
hemophilia have less than 1% of the normal levels of active clotting factor
present in their blood.  The general term hemophilia includes Hemophilia A
(Classical Hemophilia, Factor VIII deficiency), and Hemophilia B (Christmas
Disease, Factor IX deficiency).  von Willebrand's Disease (which affects both
males and females) and other rare clotting disorders may have similar
symptoms but are not usually termed hemophilia.  Hemophilia is a sex-linked
genetic disorder.  (For more information on this disorder, choose
"Hemophilia" as your search term in the Rare Disease Database).

Patients with Thrombocytopenia-Absent Radius (TAR) Syndrome, usually have
evidence of the blood disorder in the first few months of life along with
congenital absence of the shorter of the two bones in the forearm (radius).
Congenital heart disease and kidney problems may occur in some cases.  There
is evidence of autosomal recessive inheritance in TAR syndrome.  (For more
information on this disorder, choose "TAR" as your search term in the Rare
Disease Database.)

Therapies:  Standard

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).

Therapies:  Investigational

Abnormalities of platelet function in Thrombocytopenia are being treated
experimentally with plasmapheresis.  This procedure is a method for removing
unwanted substances (toxins, metabolic substances 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 retransfused into the patient.  This therapy is still under
investigation to analyze side effects and effectiveness.  More research is
needed before plasmapheresis can be recommended for use in all but the most
severe cases of Thrombocytopenia.  Additionally, the orphan drug anagrelide is
also being tested as a treatment for this disorder.  For more information
about anagrelide physicians can contact:

     Roberts Pharmaceutical Corp.
     Meridian Center III
     6 Industrial Way West
     Eatontown, NH  07724
     [phone]

Irradiation of the spleen using low dose radiation is showing short term
improvement in the platelet count of some patients with ITP.  More
investigation of this treatment is necessary to determine the long-term
safety and effectiveness of this protocol.

A new anti-Rh immune globulin WinRho SD, is being developed by Univax
Biologics for treatment of people with Idiopathic Thrombocytopenic Purpura.
This drug may reduce platelet counts, reducing the risk of bleeding in people
with ITP.  WinRho SD is being tested on approximately 300 people with this
disorder.

This disease entry is based upon medical information available through
December 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 Thrombocytopenia, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     NIH/National Heart, Blood, & Lung Institute (NHBLI)
     Office of Public Inquiries
     9000 Rockville Pike
     Bethesda, MD 20892

The following organization will answer questions only about TAR Syndrome.
It does not provide information about other forms of Thrombocytopenia:

     Thrombocytopenia Absent Radius Syndrome Assoc. (TARSA)
     321 Sherwood Drive
     R.D. 1
     Linwood, NJ 08221
     [phone]

For genetic information and genetic counseling referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

INTERNAL MEDICINE, 2nd Ed.:  Jay H. Stein, ed.-in-chief; Little, Brown and
Co., 1987.  Pp. 1001-1008.

SUCCESSFUL INTRAVENOUS IMMUNE GLOBULIN THERAPY FOR HUMAN IMMUNODEFICENCY
VIRUS-ASSOCIATED THROMBOCYTOPENIA.  A.N Pollak, et al.; Arch Intern Med
(March, 1988, issue 148 (3)).  Pp. 695-697.

SPLENECTOMY FOR THROMBOCYTOPENIA DUE TO SECONDARY HYPERSPLENISM.  W.W.
Coon, Arch Surg (March, 1988, issue 148 (3)).  Pp. 369-371.

SUCCESSFUL CONSERVATIVE MANAGEMENT OF THROMBOCYTOPENIA IN ADULT
HEMOPHILIACS.  J.C. Goldsmith, et al.; Transfusion (January and February,
1988, issue 28 (1)).  Pp. 68-69.