Alerts and Notices
SynopsisCyclic neutropenia is a rare congenital blood disorder characterized by a predictable cyclic drop in neutrophils (neutropenia) followed by an inflammatory response generally due to infection in the setting of neutropenia, occurring approximately every 2-4 weeks. This condition is usually inherited in an autosomal dominant pattern; however, sporadic cases may occur.
The condition is identified in 1 in 1 million people worldwide and is due to mutations in the ELANE gene resulting in an abnormal neutrophil elastase protein. The condition is inherited in an autosomal dominant fashion.
Cyclic neutropenia presents in the first year of life with recurring symptoms of fever, malaise, and oropharyngeal and/or skin infection (eg, stomatitis, gingivitis, pharyngitis, sinusitis). Usually by the time symptoms appear, the neutrophil counts have recovered. Infection is mild; however, severe cases have been reported. More severe cases will present with abdominal pain and vomiting (neutropenic ileocolitis) and even death.
D70.4 – Cyclic neutropenia
191347008 – Cyclic neutropenia
Differential Diagnosis & Pitfalls
- Periodic fever syndromes (ie, familial Mediterranean fever, TNF receptor-associated periodic syndrome, hyperimmunoglobulinemia D syndrome)
- Shwachman-Diamond syndrome
- Lymphoproliferative disorders of large granular lymphocytes
- Primary immunodeficiencies
- Aplastic anemia with pancytopenia
- Acute myeloid leukemia
- Rheumatoid arthritis / lupus
- Felty syndrome
- Reactive granulocytopenia from medication or viruses