$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 } $Volume{} $Log{} 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 (203) 746-6518 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 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.