Short answer · Medically reviewed summary · Last updated: 2026-05-08
Cyclic Neutropenia is an ultra-rare hematological disorder with an estimated prevalence of approximately 1 in 1,000,000 people worldwide. Because the condition is often misdiagnosed as common viral infections or other neutropenic disorders, the true number of individuals living with Cyclic Neutropenia is likely higher than current clinical literature suggests. What is the estimated prevalence and incidence of Cyclic Neutropenia? While exact global figures are difficult to track, Cyclic Neutropenia is categorized as an ultra-rare disease.
What is the prevalence of Cyclic Neutropenia?
Prevalence of Cyclic Neutropenia: how many people are affected worldwide, differences by sex and region, with sources.
Cyclic Neutropenia is an ultra-rare hematological disorder with an estimated prevalence of approximately 1 in 1,000,000 people worldwide. Because the condition is often misdiagnosed as common viral infections or other neutropenic disorders, the true number of individuals living with Cyclic Neutropenia is likely higher than current clinical literature suggests.
What is the estimated prevalence and incidence of Cyclic Neutropenia?
While exact global figures are difficult to track, Cyclic Neutropenia is categorized as an ultra-rare disease. Clinical data from Orphanet suggests a prevalence of roughly 1 per million. Incidence rates are similarly difficult to pinpoint, as many cases go unrecognized until a patient experiences severe, recurrent secondary infections. Within the DiseaseMaps.org community, 25 individuals have identified as living with this condition, providing a vital real-world perspective on the diagnostic journey.
Is there a difference in gender, age, or ethnicity?
Cyclic Neutropenia affects males and females equally, with no reported ethnic or geographic predilection. The condition typically presents in early childhood, often within the first few years of life, though some milder cases may not be diagnosed until adulthood. Because Cyclic Neutropenia is usually caused by mutations in the ELANE gene, which follows an autosomal dominant inheritance pattern, it is frequently identified in pediatric populations with a family history of the disease.
Why is accurate data for Cyclic Neutropenia hard to obtain?
The rarity of Cyclic Neutropenia leads to several epidemiological challenges:
- Misdiagnosis: Symptoms like fever and mouth ulcers are often attributed to common childhood illnesses.
- Cyclical Nature: Blood counts may appear normal between cycles, leading to false negatives during routine screening.
- Under-reporting: Many mild cases may never reach the attention of a hematologist, skewing prevalence statistics.
Next steps
- Consult a pediatric hematologist or immunologist for serial complete blood counts (CBC) if you suspect Cyclic Neutropenia.
- Document your symptoms and temperature in a diary to identify the characteristic 21-day cycle associated with Cyclic Neutropenia.
- Connect with the 25 members of the DiseaseMaps.org community to share experiences and find support.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.
References
- Orphanet: Rare Disease Database (ORPHA:650)
- NIH Genetic and Rare Diseases Information Center (GARD)
- Online Mendelian Inheritance in Man (OMIM #162800)
- Severe Chronic Neutropenia International Registry (SCNIR)
