Living with Hereditary neutrophilia
A rare inherited immune condition with a long-term high white blood cell (neutrophil) count, often with no symptoms.
Understanding Hereditary neutrophilia
Blood and bone marrow show extra young white blood cells, and the spleen can be enlarged. Most people have no symptoms. Some have a body-wide inflammatory reaction with fever, shortness of breath, and fast heartbeat, or a bone marrow condition called myelodysplastic syndrome. It can show up at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- High neutrophil count in the blood
- Enlarged spleen
- Often no symptoms
- Fever and fast heartbeat in some people
- Shortness of breath in some people
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists and genetic specialists.
- 3Consider genetic testing
Changes in CSF3R are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the CSF3R gene. It is autosomal dominant, so one changed copy of the gene is enough.
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary neutrophilia.
Explore research for Hereditary neutrophilia
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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