Cyclic Neutropenia: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Cyclic Neutropenia?
A hematologist, a doctor who treats blood disorders, usually cares for cyclic neutropenia. Children often see a pediatric hematologist, a blood doctor for children. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is cyclic neutropenia?
Cyclic neutropenia is a rare condition that causes frequent infections. People with it have repeated episodes of neutropenia, a shortage of white blood cells called neutrophils.
Neutrophils help the body fight infection. For most people, the shortage comes back every 21 days and lasts about 3 to 5 days.
The episodes are apparent at birth or soon afterward.
Symptoms
Symptoms happen during the low neutrophil episodes. They can include:
- Repeated infections of the sinuses, respiratory tract (the airways and lungs), and skin.
- Fever.
- Open sores, called ulcers, in the mouth.
- A sore throat from inflammation of the throat, and inflamed gums.
- Belly pain.
- Feeling unwell. Loss of appetite.
When neutrophil levels are normal, people are not at an increased risk of infection.
Gum disease can loosen teeth and cause early tooth loss. Some infections can be life-threatening.
Causes and who gets it
Changes in the ELANE gene cause cyclic neutropenia. This gene makes a protein called neutrophil elastase, which is found in neutrophils.
Neutrophils with the abnormal protein seem to live a shorter time. That is thought to cause the cycles of low neutrophil counts.
It is inherited in an autosomal dominant pattern. One changed copy of the gene in each cell is enough to cause it. Most people inherit the change from an affected parent. Other cases come from new gene changes in people with no family history.
It affects males and females in equal numbers. It is estimated to occur in 1 in 1 million people worldwide.
How doctors diagnose it
Doctors start with a detailed history and a careful exam.
The diagnosis may be confirmed by checking the neutrophil count in the blood two or three times per week for six weeks. A complete blood count is a blood test that counts blood cells.
People with cyclic neutropenia should be tested for changes in the ELANE gene.
Treatment
Quick treatment of infections is important. This may include antibiotics, which are medicines that kill bacteria.
Careful mouth and dental care is also needed. People with cyclic neutropenia should avoid activities that may cause minor injuries.
A medicine called G-CSF (granulocyte-colony stimulating factor) has been used to treat cyclic neutropenia since 1987. One form, filgrastim, was approved by the FDA for cyclic neutropenia and other types of severe chronic neutropenia.
Long-term treatment can raise neutrophil counts to the normal range in most people. This reduces infections and other symptoms. Careful evaluation before starting and ongoing watching during treatment are essential for long-term safety.
Genetic counseling is recommended for people with inherited forms of cyclic neutropenia and their families.
When to see a doctor
Get prompt treatment for infections if you have cyclic neutropenia. Infections can be life threatening and need urgent medical care.
Call 911 or go to the emergency room if you have a fever of 100.5 degrees F (38 degrees C) or higher, chills, trouble breathing, a sudden change in mental state, or severe belly pain. Check with your doctor before taking any medicine for a fever.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care doctor can order blood counts, help you spot a pattern in your infections, and coordinate visits with a blood doctor and a dentist.
Common questions
Is cyclic neutropenia inherited?
Yes, it usually is. It follows an autosomal dominant pattern, so one changed gene copy can cause it.
How often do the episodes of cyclic neutropenia happen?
For most people, episodes happen about every 21 days. Each episode lasts about 3 to 5 days.
Are people with cyclic neutropenia always at risk of infection?
No, they are at higher risk only during episodes of neutropenia.
Does cyclic neutropenia have a treatment?
Yes, treatment can reduce infections and other symptoms. Doctors treat infections quickly. G-CSF is one treatment used.
Sources
- MedlinePlus Genetics - Cyclic neutropenia
- NORD - Cyclic Neutropenia
- National Cancer Institute - Infection and Neutropenia and Cancer Treatment
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
