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$Unique_ID{BRK04049}
$Pretitle{}
$Title{Neutropenia, Chronic}
$Subject{Neutropenia Chronic Chronic Benign Neutropenia Chronic Idiopathic
Neutropenia Familial Neutropenia Familial Benign Neutropenia Chronic
Granulomatous Disease Leukemia Myelofibrosis-Osteosclerosis Vitamin B12
Deficiency }
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Copyright (C) 1991 National Organization for Rare Disorders, Inc.

857:
Neutropenia, Chronic

** IMPORTANT **
It is possible the main title of the article (Chronic Neutropenia
Syndrome) is not the name you expected.  Please check the SYNONYMS listing on
the next page to find alternate names and disorder subdivisions covered by
this article.

Synonyms

Disorder Subdivisions:

     Chronic Benign Neutropenia
     Chronic Idiopathic Neutropenia
     Familial Neutropenia
     Familial Benign Neutropenia

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

     Chronic Granulomatous Disease
     Leukemia
     Myelofibrosis-Osteosclerosis
     Vitamin B12 Deficiency

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.

Chronic Neutropenia is a blood disorder in which bone marrow does not
produce white blood cells containing granules called "neutrophils."  This
disease often makes the patient more susceptible to infections from fungus
and bacteria.  Chronic Neutropenia may last for months or years.  It can
affect both children and adults.

Symptoms

Symptoms of Chronic Neutropenia can vary greatly depending on the level of
blood neutrophils in the bone marrow.  In general the fewer neutrophils a
person has, the more susceptible to infection he is.  There are various
characteristics that Chronic Neutropenia patients have in common.  The
lymphocyte (white blood cells formed in the lymphoid tissue), erythrocyte
(red blood cells or corpuscles), reticulocyte (young red blood occuring
during the active process of blood regeneration), and platelet counts (disks
found in the blood containing granules and clear protoplasm) are normal or
close to normal.  The levels of monocytes (large white blood cells in the
circulating blood) and immunoglobulin (vertebrate serum proteins that include
all antibodies) are increased or normal.  Thus there is no apparent cause for
the neutropenia.  There may be an increase of the ratio of immature cells to
mature cells indicating that the process of forming new blood cells is not in
balance with old cells dying off.

Fever, enlarged spleen and infection may be present.  However, if
diagnosed very early, patients may be treated before infections occur.
Inflammation of the gums, pneumonia, and lung abscesses are characteristic of
Chronic Neutropenia.  In rare cases, Chronic Neutropenia may develop into
Aplastic Anemia or Leukemia.  (For more information on these disorders,
choose "Aplastic Anemia" and "Leukemia" as your search terms in the Rare
Disease Database.)

Subtypes of Chronic Neutropenia include Familial Neutropenia (occurring
in more than one member of a family), Chronic Benign Neutropenia, and
Familial Benign Neutropenia in children.  The adult form of this disorder is
referred to as Chronic Idiopathic (of unknown cause) Neutropenia.

Causes

Chronic Neutropenia occurs due to impaired production of blood cells in the
bone marrow.  In many cases the cause is unknown.  Other patients seem to
develop this disorder while taking certain drugs.  Some drugs may cause
Chronic Neutropenia as a side effect while other drugs cause Neutropenia in a
way that is not related to the dosage or duration.

Familial Neutropenia and Familial Benign Neutropenia are both thought to
be inherited through autosomal dominant traits.  (Human traits including the
classic genetic diseases, are the product of the interaction of two genes for
that condition, one received from the father and one from the mother.  In
dominant disorders, a single copy of the disease gene (received from either
the mother or father) will be expressed "dominating" the normal gene and
resulting in appearance of the disease.  The risk of transmitting the
disorder from affected parent to offspring is 50% for each pregnancy
regardless of the sex of the resulting child.)

Chronic Benign Neutropenia (in children) usually has no family history,
so it does not appear to be genetic.

In Chronic Idiopathic Neutropenia the cause is unknown.  This form of the
disorder is usually found in adults and, in some cases, may have been present
in the patient as a child, going undetected until adulthood.

Affected Population

Chronic Neutropenia is a rare blood disease that affects males and females in
equal numbers.  Children and adults can both be affected.  The most severe
cases tend to occur during adulthood.

Related Disorders

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

Chronic Granulomatous Disease is a rare blood disorder which affects
certain white blood cells (lymphocytes).  This disorder is characterized by
an inability to resist infection and widespread growth of tumor-like lesions.
There is usually a history of pneumonia, inflammation of the lymph glands,
and enlargement of the liver and spleen.  (For more information on this
disorder, choose "Chronic Granulomatous Disease" as your search term in the
Rare Disease Database.)

Leukemia is a group of malignant blood diseases affecting the white blood
cells (leukocytes).  These leukocytes play an important part in the body's
defenses against infection.  Leukemia can affect both children and adults.
Symptoms include swollen lymph nodes, enlarged spleen and liver, fever,
weight loss, paleness, fatigue, bruising easily, excessive bleeding, and
repeated infections.  (For more information on this disorder, choose
"Leukemia" as your search term in the Rare Disease Database.)

Myelofibrosis-Osteosclerosis is a disorder characterized by proliferation
of fibrous tissue in the bone marrow causing anemia, weakness, and fatigue
due to low levels of red blood cells.  Severe pain in the abdomen, bones and
joints may occur.  (For more information on this disorder, choose
"Myelofibrosis" as your search term in the Rare Disease Database.)

Vitamin B12 Deficiency is a disorder in which there is a low level of B12
in the blood.  This deficiency causes changes in the blood and the central
nervous system.  Symptoms of this deficiency usually occur years after
absorption of Vitamin B12 ceases because the body needs only a small amount,
and there is usually a large amount of B12 stored in the liver.  Symptoms may
include a low red blood cell count (anemia), enlarged spleen and liver, lack
of appetite, intermittent constipation and diarrhea, and abdominal pain.  The
first symptom is usually a burning sensation in the mouth.  (For more
information on this disorder, choose "Vitamin B12 Deficiency" as your search
term in the Rare Disease Database.)

Therapies:  Standard

The infections associated with Chronic Neutropenia are usually managed with
antibiotics.  Some patients may benefit from glucocorticoids, a group of
anti-inflammatory drugs that suppress the immune system.  Intravenous
immunoglobulin, the protein part of the blood that is rich in antibodies, is
usually prescribed to control this disorder.

The orphan drug Neupogen has been approved by the FDA for use in the
treatment of Chronic Neutropenia.  It is manufactured by Amgen, Inc., 1840
Dehaviland Dr., Thousand Oaks, CA, 91320-1789.

Genetic counseling may be of benefit for patients and their families in
they have the familial type of Chronic Neutropenia.

Therapies:  Investigational

Colony-stimulating factor (a type of drug that stimulates the production of
blood cells that enhance the function of mature leukocytes) is being tested.
Granulocyte macrophage colony stimulating factor (GM-CSF) is a protein
derived from bacteria, yeast, and mammalian cells.  It is being developed by
Schering Plough and Sandoz Pharmaceuticals under the brand name Leucomax.

Plasmapheresis may be of benefit in some cases of Chronic Neutropenia.
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 plasma is
then replaced with other human plasma and the blood is retransfused into the
patient.  This therapy is still under investigation to analyze long-term
effectiveness.  More research is needed for use in all but the most severe
cases of Chronic Neutropenia.

This disease entry is based upon medical information available through
July 1991.  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 Chronic Neutropenia, please contact:

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

     NIH/National Heart, Lung and Blood Institute (NHLBI)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

For genetic information and genetic counseling referrals, please contact:

     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

MENDELIAN INHERITANCE IN MAN, 8th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  P. 660.

INTERNAL MEDICINE, 2nd ed.:  Jay H. Stein, ed.-in-chief; Little, Brown
and Co., 1987.  Pp. 974-5.

THE MERCK MANUAL 15th ed:  R. Berkow, et al:  eds; Merck, Sharp & Dohme
Research Laboratories, 1987.  Pp. 1173-76.

HEMATOLOGY, 4th Ed.:  William J. Williams, M.D., et al., Editors; McGraw-
Hill, Inc., 1990.  Pp. 273, 803, 809-10.