Cyclic neutropenia is a rare blood disorder in children
Cyclic neutropenia is a rare disorder that happens when the blood doesn’t have enough neutrophils, a type of white blood cell that aids in fighting bacteria.
“In cyclic neutropenia, a child experiences regular episodes of low neutrophils, which make them more susceptible to bacterial infections,” said Ashok B. Raj, M.D., pediatric hematologist/oncologist with Norton Children’s Cancer Institute, affiliated with the UofL School of Medicine.
Infections caused by cyclic neutropenia may affect the skin, stomach, throat, mouth, sinuses and respiratory tract. Since the body is not able to adequately fight off the bacteria, these infections could become serious or potentially life-threatening.
How is it diagnosed?
Neutropenia typically is found during blood tests. Symptoms may include fever, fatigue/weakness, sore throat, inflamed gums and open sores in the mouth. These signs typically reappear at regular intervals.
Usually, neutropenic episodes return every few weeks and can last for several days up to a week. When the child’s neutrophil levels return to normal, they do not experience the same risks for infection.
What causes it?
Cyclic neutropenia is caused by a mutation in the ELANE gene, which affects a type of protein in the neutrophils that helps fight infection. This genetic mutation, which often is inherited from one parent, creates an abnormal protein that has a shorter lifespan than normal neutrophils. This causes a recurring cycle of neutropenia until the body can refill its healthy supply of neutrophils.
Neutropenia also may be caused by chemotherapy, radiation therapy or an autoimmune disorder.
How is it treated?
Treatment options include:
- Antibiotics for infections
- Granulocyte colony-stimulating growth factor (G-CSF) injections
- This encourages the bone marrow to produce more neutrophils.
- Stem cell (bone marrow) transplant
Since neutropenia makes children more susceptible to developing infections, parents should take care to avoid places where there are lots of germs, such as spending time in crowded areas or knowingly being around sick people.