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What is cyclic neutropenia?

Cyclic neutropenia is a rare blood disorder that causes episodes of low levels of neutrophils (a type of white blood cell) in the body. Neutrophils are vital to fighting infection by surrounding and destroying bacteria that enter the body. Symptoms of cyclic neutropenia may include fever, a feeling of poor health, as well as possible ulcers (sores) in the mouth. Children with cyclic neutropenia are vulnerable to recurrent infections.

Cyclic neutropenia may be inherited genetically or acquired by a developed mutation. Some cases are present at birth and appear to occur sporadically. Treatment options include quickly addressing associated infections and therapies aimed at stimulating the production of neutrophils.

Cyclic Neutropenia | Symptoms & Causes

What are the symptoms of cyclic neutropenia?

Signs of cyclic neutropenia usually appear at birth or shortly after. This condition is characterized by recurrent episodes of neutropenia and last between three to five days. During episodes of neutropenia, it may be more difficult for the body to fight infections. The severity of the resulting infections can vary and are often similar to the severity of the neutropenia itself.

Symptoms during periods of neutropenia may include:

  • Recurrent fever
  • Sore throat (pharyngitis)
  • Inflammation of the gums (gingivitis)
  • Inflamed and sore mouth (stomatitis)
  • Infections in the skin and in other areas of the body

Cycling frequency appears to lessen with age and may disappear by age 30 in some patients. Children with cyclic neutropenia only have symptoms during neutropenia episodes. At other times, when their neutrophil levels are normal, they are less susceptible to infection.

What causes cyclic neutropenia?

Cyclic neutropenia is inherited in an autosomal-dominant (non-sex chromosomes) pattern. This means only one copy of the altered gene in each cell is sufficient to cause the condition. 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 family history.

Cyclic Neutropenia | Diagnosis & Treatments

How is cyclic neutropenia diagnosed?

A diagnosis may be suspected based on signs and symptoms, including regular fluctuations in the level of neutrophils in the blood. The diagnosis of cyclic neutropenia is often confirmed by blood work.

How is cyclic neutropenia treated?

Treatment for cyclic neutropenia may include taking antibiotic medicines for fevers and infections. Children who exhibit abdominal pain need to be carefully evaluated for potentially serious complications.

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

How we care for cyclic neutropenia

Children with cyclic neutropenia are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Bone Marrow Failure and Myelodysplastic Syndrome Program, recognized as one of the nation’s best pediatric treatment and research programs for bone marrow failure and related conditions. Our patients have access to advanced diagnosis and treatments, including DNA mutation identification and ongoing clinical trials.

Cyclic Neutropenia | Programs & Services