From the Guidelines
Pediatric cyclic neutropenia is diagnosed based on clinical presentation and laboratory findings, and the primary treatment is granulocyte-colony stimulating factor (G-CSF) therapy.
Diagnosis and Treatment
- The diagnosis of cyclic neutropenia is based on a combination of clinical features, such as recurrent infections, mouth ulcers, and fever, as well as laboratory findings, including periodic fluctuations in neutrophil counts 1.
- G-CSF therapy is the established treatment for cyclic neutropenia, with daily, alternate-day, or thrice-per-week subcutaneous administration of 1-3 mcg/kg/d, adjusted to maintain a normal or low-normal blood neutrophil level 1.
- The goal of G-CSF therapy is to prevent infections, mouth ulcers, and other complications associated with neutropenia, and to improve quality of life.
- Long-term therapy with G-CSF is often necessary, and patients should be carefully monitored for potential adverse effects, such as bone pain, arthralgias, and myalgias, which usually diminish in the first few weeks of treatment 1.
- Hematopoietic stem cell transplantation is an alternative therapy, but it is typically reserved for patients with severe congenital neutropenia or those who do not respond to G-CSF therapy 1.
From the Research
Diagnosis of Pediatric Cyclic Neutropenia
- Cyclic neutropenia is a rare hematological condition characterized by periodic fluctuations in neutrophil counts, with a 21-day periodicity 2, 3.
- The clinical presentation varies from mild to severe forms of the disease, with the onset of recurrent fever, painful oral ulcers, recurrent bacterial infections, peritonitis, and septic shock 2, 3, 4, 5.
- Diagnosis is often delayed due to unawareness of the rare but distinctive disorder and the practice of obtaining screening blood counts without leukocyte differentials 4.
- Serial blood cell counts can reveal the characteristic oscillations of the circulating neutrophils with 21-day periodicity from near normal to extremely low levels 4.
Treatment of Pediatric Cyclic Neutropenia
- The availability of granulocyte colony-stimulating factor (G-CSF) has revolutionized the management and natural history of this disease, regulating the proliferation, differentiation, and maturation of the progenitor cells, and reducing the duration of neutropenia 2, 4, 6.
- Therapy with G-CSF can be beneficial in managing the symptoms of cyclic neutropenia, and patients should be enrolled in the Severe Chronic Neutropenia International Registry (SCNIR) 4.
- Local and symptomatic therapy for the recurrent mouth ulcers and pharyngitis, and antibiotics for episodes of sinusitis, pneumonia, peritonitis, or bacteremia may also be necessary 3, 5.
- In some cases, therapy with glucocorticosteroids, androgens, and plasmapheresis has been efficacious, but no therapy has been proven to alter the cycling of blood counts in children 3.