Cyclic neutropenia

How is cyclic neutropenia diagnosed?

The diagnosis of cyclic neutropenia may be suspected based on signs and symptoms including regular, cyclic fluctuations in the level of neutrophils in the blood. The diagnosis of cyclic neutropenia is often confirmed by blood work including measurement of an absolute neutrophil count that is less than 200/microL during periods of neutropenia on multiple days within at least 3 regularly spaced cycles. Genetic testing can additionally be helpful to confirm the diagnosis.

Last updated on 05-01-20

How is cyclic neutropenia inherited?

Cyclic neutropenia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Last updated on 05-01-20

How might cyclic neutropenia be treated?

Treatment for cyclic neutropenia includes taking antibiotic medicines for fevers and infections. People with abdominal pain need to be carefully evaluated for the potentially serious complications of peritonitis and bacteremia.

Treatment with granulocyte colony-stimulating factor (G-CSF), also called Neupogen, is effective in raising blood neutrophil counts in cyclic neutropenia. G-CSF treatment reduces the symptoms and problems of infections in almost all people. Treatment is may be started as early as age six months to one year. Studies indicate that treatment is effective with no adverse effects on growth, development, or pregnancy outcome with follow-up to age 18 years.

Common side effects of G-CSF include bone pain and headache, enlarged spleen, and osteoporosis. Less common side effects include vasculitis, rashes, joint pain, and kidney disease (glomerulonephritis).

For people with a well-matched donor, a bone marrow transplant may be the preferred treatment option. HSCT is the only alternative therapy for individuals with congenital neutropenia who do not respond to G-CSF or who undergo malignant transformation to cancer.

Last updated on 05-01-20

Name: National Neutropenia Network P.O. Box 1693
Brighton, MI, 48116, United States
Toll Free: 1-877-326-7117 Email: Url:
Name: Neutropenia Support Association, Inc. 971 Corydon Avenue P.O. Box 243
Winnepeg, Manitoba, R3M 3S7
Phone: 204-489-8454 Toll Free: 800-663-8876 Email: Url:
Cyclic neutropenia Genetics Home Reference (GHR). January 2012; Reference Link

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