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Cyclic Neutropenia
Sunday, 05 December 2004
Sunday, 05 December 2004

What

Cyclic neutropenia is a rare blood disorder characterized by recurrent, regularly cycling (approximately every 21 days) episodes of low neutrophil counts (neutropenia). Neutrophils are a type of white blood cell, which is a component of blood. Neutrophils are important in fighting off infections by destroying bacteria that enter the body. During times of neutropenia, people are at higher risk of infections.

Who

This illness occurs equally in males and females, with an incidence of about 1 per million persons. It is usually inherited from a parent, but the diagnosed person can also be the first and only member of the family to have the condition. In the latter case, the person is said to have a new mutation or defect in the specific gene associated with this condition. More commonly, when cyclic neutropenia is inherited, it is transmitted in an autosomal dominant fashion, which means that a parent with the condition passes on the defective gene carrying the illness to 50% of his or her children. If the child gets the broken gene, he or she will have the illness. Children are usually diagnosed within the first year of life, but it has also been described to have onset later in life.

Signs and Symptoms

Individuals with neutropenia are at higher risk of developing recurrent infections. In this illness, since the neutrophil count rises and falls regularly, approximately every 21 days, symptoms occur when the count is low. When the neutrophil count is higher, the child is generally healthy. Periods of illness are usually characterized by fever, general feeling of illness (malaise), mouth sores, and swollen lymph nodes. Significant infections like ear infection, pneumonia, skin infection (especially around the anus), intestinal infection, and bacterial blood infection can occur. Other symptoms include sinus infections, headaches, bone pain, tooth infections, and gingivitis (infections of the gums). Some people have more severe illness, while in others symptoms are mild.

Possible Causes

The condition is caused by fluctuating rates of neutrophil production in the bone marrow. The specific gene involved in the condition has been identified. It is called the ELA2 gene, and when defective, neutrophils do not survive normally.

Diagnosis

Cyclic neutropenia is diagnosed by obtaining a complete history and physical examination and through serial blood counts. This blood testing is generally done at least three times per week for six weeks. Occasionally, a procedure called a bone marrow aspiration/biopsy is needed and involves the insertion of a needle in the back of the hip bone. The bone marrow procedure allows your doctor to examine the marrow under the microscope and study neutrophil production and development. The bone marrow can look normal when neutrophil counts are higher, or it can show a severe arrest of development of neutrophils when counts are very low. Testing can also be done to look for the specific broken ELA2 gene (molecular genetic testing). Prenatal testing can be done with cells collected by amniocentesis (16-18 weeks of pregnancy) or chorionic villus sampling (10-12 weeks). However this is controversial and not often done given that the illness does not affect intellect and treatments are available. Other family members may be tested if an individual is diagnosed as having cyclic neutropenia.

Treatment

An injectable medication called G-CSF is an effective treatment to increase neutrophil counts and reduce infectious complications in at least 90% of individuals. It may be needed daily, every other day, or only for the days around the early phase of neutropenia. Long-term treatment with this medication does not seem to have adverse effects on growth, development or pregnancy outcome. Common side effects include bone pain, and headache. Rarely reported complications include spleen enlargement, osteoporosis (decreased bone density), vasculitis (inflammation of blood vessels), rashes, joint pains, and kidney problems. Infections are treated promptly with antibiotics. Careful dental care is important to prevent dental infections.

Prognosis

Teeth may be permanently lost due to gum and tooth infections. There is no increased risk of cancer with this illness. Death is unlikely, but rarely occurs with serious intestinal and blood bacterial infections. Most children improve in time.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Neutropenia Support Association:
Information about neutropenia and related issues, a mailing list, clinical trials, conferences and news, links to other related sites, and adverse reactions to treatments. Also included is information regarding the Severe Chronic Neutropenia International Registry (SCNIR).

National Organization for Rare Disorders:
General information regarding the illness and links to related sites.

Severe Chronic Neutropenia International Registry:
Information about the SCNIR, neutropenic diseases and their management, a newsletter, support groups, a glossary of terms, and frequently asked questions. Also provides information on joining the registry.

Wrong Diagnosis.com
Nice site for basic overview.

Google Search for Cyclic Neutropenia

References and Sources

Gene Reviews: www.geneclinics.org OMIM: www.ncbi.nlm.nih.gov SCNIR: www.depts.washington.edu/registry medicine: www.emedicine.com/med/topic1640.htm