Cyclic neutropenia

Cyclic neutropenia is a rare blood disorder characterized by recurrent episodes of abnormally low levels of certain white blood cells (neutrophils) in the body. This condition is a type of neutropenia, and it is distinguished by its cyclic pattern. Episodes of neutropenia typically occur every 21 days and last for 3 to 6 days.

Symptoms

The decrease in neutrophils leads to a higher susceptibility to infections. During periods of neutropenia, individuals typically present with recurrent fevers, mouth ulcers, and skin abscesses. Other symptoms may include gastroenteritis, pneumonia, and otitis media.

Causes

Cyclic neutropenia is caused by mutations in the ELANE gene. This gene provides instructions for making an enzyme called neutrophil elastase, which is involved in the formation of neutrophils. Mutations in the ELANE gene lead to the production of abnormal neutrophil elastase, which can cause the death of neutrophils and lead to neutropenia.

Diagnosis

Diagnosis of cyclic neutropenia involves a complete blood count (CBC) to measure the number of neutrophils. A diagnosis can be confirmed by observing a cyclic pattern of neutropenia over a 6-week period. Genetic testing can also be used to identify mutations in the ELANE gene.

Treatment

Treatment for cyclic neutropenia is aimed at managing symptoms and preventing infections. This may involve the use of antibiotics to treat infections and granulocyte colony-stimulating factor (G-CSF) to increase the production of neutrophils.

Prognosis

With appropriate treatment, individuals with cyclic neutropenia can lead normal lives. However, they may have a slightly increased risk of developing myelodysplastic syndrome or acute myeloid leukemia.

See also

• Neutropenia
• ELANE
• Myelodysplastic syndrome
• Acute myeloid leukemia

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