Cyclic neutropenia

What is cyclic neutropenia?

Neutropenia is the medical term for a decrease in the number of white blood cells called neutrophils. Neutrophils are a very important part of the immune system. Neutrophils protect the body against bacterial infections. A person who has low neutrophils may be more susceptible to bacterial infections.

Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals. People with this condition have recurrent episodes of neutropenia. The episodes of neutropenia are usually apparent at birth or soon afterward. For most affected individuals, neutropenia recurs every 21 days and lasts about 3 to 5 days.

What are the symptoms of cyclic neutropenia?

People with cyclic neutropenia typically develop recurrent infections of the sinuses, respiratory tract, and skin. Additionally, people with this condition often develop open sores (ulcers) in the mouth and colon, inflammation of the throat (pharyngitis) and gums (gingivitis), recurrent fever, or abdominal pain. People with cyclic neutropenia have these health problems only during episodes of neutropenia. At times when their neutrophil levels are normal, they are not at an increased risk of infection and inflammation

How is cyclic neutropenia diagnosed?

Diagnosis requires repeated blood tests at least two to three times per week for four to six weeks in order to document the cyclical nature of the neutropenia. Cyclic neutropenia can also be confirmed with gene testing. This disorder is associated with a known genetic mutation called ELANE. Occasionally a bone marrow test is required. Since this disorder is inherited, other family members may also be tested.

How is cyclic neutropenia treated?

Patients with cyclic neutropenia require prompt treatment of fevers and infections with antibiotics.

Treatment with a medication called granulocyte colony-stimulating factor (G-CSF) can help to increase the neutrophil count. Once the neutrophil count is within a normal range, generally the problems with infections will also improve. This medication is given by injection every day to every few days depending on the response.

About treatment for cyclic neutropenia at Children’s

Children’s Cancer and Blood Disorders program achieves outcomes that rank among the top national programs and cares for more than two-thirds of Minnesota children and adolescents with blood disorders. In the program, families coping with cyclic neutropenia have access to the newest and most promising treatments and receive care spearheaded and coordinated by a board-certified hematologist/oncologist.

With cyclic neutropenia, most children respond to treatment but do require close monitoring. Our professionals will track your child’s recovery in an effort to stay well ahead of any possible complications.

Contact us

If you are a family member looking for a Children’s hematologist or oncologist or wanting to schedule an appointment, call the outpatient clinic at Children’s – Minneapolis at (612) 813-5940

If you are a health professional looking for consultation or referral information, please call Children's Physician Access at 1-866-755-2121 (toll-free).