Cyclic neutropenia is a rare hematological disorder characterized by recurrent episodes of abnormally low levels of neutrophils, a type of white blood cell that plays a crucial role in the body’s immune response against infections. Neutropenia refers to a decrease in the number of neutrophils circulating in the bloodstream.
In cyclic neutropenia, the neutrophil levels typically fluctuate in a regular pattern, with periods of low neutrophil counts (neutropenia) interspersed with periods of normal or near-normal counts. These cycles usually occur every 21 to 35 days but can vary from person to person.
The condition may present with symptoms such as:
- Frequent infections, particularly bacterial infections affecting the skin, mouth, throat, or respiratory tract.
- Fever.
- Mouth ulcers.
- Sore throat.
- Gingivitis.
- Skin abscesses.
The underlying cause of cyclic neutropenia is often genetic, resulting from mutations in the ELANE gene, which provides instructions for making an enzyme called neutrophil elastase. Neutrophil elastase is essential for the proper development and function of neutrophils. Mutations in this gene can lead to abnormal neutrophil production and function, resulting in cyclic neutropenia.
Treatment for cyclic neutropenia typically involves managing infections with antibiotics, administering medications to stimulate the production of neutrophils during periods of low counts (such as granulocyte colony-stimulating factor, or G-CSF), and monitoring blood counts regularly to adjust treatment as needed. In severe cases, bone marrow transplantation may be considered as a potential cure.