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What is Cyclic Neutropenia?
Written by Medicover Team and Medically Reviewed by Dr Khan Mohammed Taha Ali , Hematologists
Cyclic neutropenia is a rare blood disorder where a person's neutrophil count (a type of white blood cell) drops to very low levels in a regular pattern, typically every 21 days. This drop lasts for a few days and increases the risk of infections, especially in the mouth, throat, and skin.
The condition is often inherited and usually appears in infancy or early childhood, though adults can also be affected. Most cases are caused by mutations in the ELANE gene, which affects the production of neutrophils.
People with cyclic neutropenia may feel fine most of the time but are particularly vulnerable during periods of low neutrophil counts. Common symptoms include fever, mouth ulcers, sore throat, fatigue, and a higher risk of frequent infections.
With proper care and monitoring, many individuals can effectively manage this condition.
How common is cyclic neutropenia?
Cyclic neutropenia is a rare condition that affects approximately 1 in 1 million people. It is most often diagnosed in infants and young children, though it can also occur in adults.
Due to its subtle and recurring symptoms, it may remain undiagnosed for a while. Early recognition and regular blood count monitoring are crucial for effectively managing the condition.
Is cyclic neutropenia an immune deficiency?
Yes, cyclic neutropenia is considered a type of immune deficiency.
It specifically affects the innate immune system, the body's first line of defence against infections. During the low points in the cycle, when neutrophil levels drop, the body becomes temporarily less able to fight off bacteria and other pathogens.
This increases the likelihood of recurrent infections, particularly in the mouth, skin, and respiratory tract.
While it is not a broad immune deficiency like some other conditions, it is a targeted immune deficiency affecting neutrophils.
What are the Symptoms of Cyclic Neutropenia?
The symptoms of cyclic neutropenia come and go in cycles, usually every 21 days, when neutrophil levels drop. During these low periods, the immune system is weaker, and infections are more likely.
Common Cyclic Neutropenia Symptoms Include
- Frequent fevers
- Mouth ulcers or painful sores
- Sore throat
- Gum infections (gingivitis)
- Swollen lymph nodes
- Skin infections or abscesses
- Fatigue or weakness
- Recurring respiratory infections (ear, sinus, or chest)
Symptoms are usually mild between cycles but can become severe during neutropenic phases, especially in young children. Regular monitoring and early treatment help reduce complications.
What Are the Causes of Cyclic Neutropenia?
Cyclic neutropenia is most often caused by a genetic mutation that affects the body's production of neutrophils, a type of white blood cell essential for fighting infections.
- ELANE gene mutation: Most cases are linked to mutations in the ELANE gene, which affects the development of neutrophils in the bone marrow. This results in periodic drops in neutrophil levels, typically occurring every 21 days.
- Inheritance:
- It is usually inherited in an autosomal dominant pattern, meaning one copy of the mutated gene from either parent can cause the condition.
- However, some cases occur spontaneously, with no family history.
In rare cases, cyclic neutropenia may occur without a clear genetic cause; however, most cases are associated with disruptions in neutrophil production related to the ELANE gene.
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Get Second OpinionCyclic Neutropenia vs. Agranulocytosis
Cyclic neutropenia and agranulocytosis are both conditions marked by low levels of neutrophils, but they differ in their causes, patterns, and severity.
Definition and Causes
- Cyclic Neutropenia: A periodic drop in neutrophil counts, often caused by inherited mutations in the ELANE gene.
- Agranulocytosis: A more severe, sustained neutropenia usually caused by medications, autoimmune diseases, infections, or bone marrow failure.
Symptoms and Severity
- Cyclic Neutropenia: Symptoms occur in cycles, recurring periodically. There are periods of normal neutrophil levels between low phases.
- Agranulocytosis: Symptoms are constant and more severe due to persistently low neutrophils, which increases the risk of severe infections.
Diagnosis and Management
- Cyclic Neutropenia: Diagnosed through repeated blood counts and genetic tests. Treated with G-CSF, antibiotics, and careful infection control.
- Agranulocytosis: Diagnosed using blood tests and bone marrow biopsy. Managed by treating the cause, stopping offending drugs, and providing supportive care.
How Is Cyclic Neutropenia Diagnosed?
Cyclic neutropenia is diagnosed through repeated blood tests and genetic analysis.
Key Steps in Diagnosis
- Complete Blood Count (CBC): Blood tests are done two to three times a week for 6-8 weeks to track neutrophil levels. A clear 21-day cycle of low neutrophils (neutropenia) confirms the pattern.
- Absolute Neutrophil Count (ANC): This specific measurement shows how low the neutrophil levels drop during each cycle.
- Genetic Testing: A DNA test can detect mutations in the ELANE gene, which is responsible for most cases of inherited cyclic neutropenia.
Early and accurate diagnosis is crucial for initiating proper treatment and reducing the risk of recurring infections.
What are the Treatment Options and Management Strategies for Cyclic Neutropenia?
The primary goal in treating cyclic neutropenia is to minimise the risk of infection during periods of low neutrophil counts. With proper care, most people live healthy, active lives.
G-CSF (Granulocyte Colony-Stimulating Factor)
This is the most effective treatment.
- G-CSF injections (e.g., filgrastim) help the bone marrow produce more neutrophils.
- It reduces the frequency and severity of infections.
- Often given during low-count periods or regularly, depending on the patient's needs.
Antibiotics
- Used to treat infections quickly when they occur.
- In some cases, preventive (prophylactic) antibiotics may be prescribed during neutropenic phases.
Good Hygiene and Monitoring
- Regular checkups, oral care, and wound protection help avoid infections.
- Parents or patients may be taught to recognize early signs of infection.
Genetic Counseling
- Recommended for families with inherited cyclic neutropenia.
- Helps understand inheritance patterns and risks in future pregnancies.
With consistent treatment and monitoring, most individuals with cyclic neutropenia have a favourable long-term prognosis.
What are the Side Effects of Cyclic Neutropenia Treatments?
The most common treatment for cyclic neutropenia is G-CSF (Granulocyte Colony-Stimulating Factor), such as filgrastim. While it is effective in raising neutrophil levels, it can have some side effects.
Common Side Effects of G-CSF
- Bone pain or joint pain (most common)
- Headache or fatigue
- Fever or chills after injection
- Redness or swelling at the injection site
- Nausea or mild stomach discomfort
Rare or Serious Side Effects
- Spleen enlargement (may cause left upper belly pain)
- Allergic reactions (rash, breathing issues, rare)
- Very high white blood cell counts (rare with long-term use)
Most side effects are mild and temporary. Doctors usually adjust the dose if needed, and pain relief medications can help manage bone discomfort. Regular follow-ups help monitor and minimise risks.
When to See a Doctor for Cyclic Neutropenia?
You should see a doctor if you or your child experiences:
- Frequent fevers or infections
- Mouth ulcers, sore throat, or gum swelling
- Recurring skin infections or abscesses
- Unusual tiredness or weakness
- Infections that don't respond well to treatment
Early diagnosis is crucial in preventing serious complications. Regular checkups and blood tests can help manage the condition effectively.
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How Do I Take Care of Myself with Cyclic Neutropenia?
Managing cyclic neutropenia involves protecting yourself from infections and adhering closely to your treatment plan. Here's how you can take care of yourself:
- Follow your treatment: Take medications like G-CSF exactly as prescribed and attend regular checkups.
- Practice good hygiene: Wash your hands often, maintain oral hygiene, and keep cuts clean to prevent infections.
- Avoid sick contacts: Stay away from people who are ill, especially during periods of neutropenia (a low white blood cell count).
- Watch for symptoms: Look out for fever, sore throat, mouth sores, or skin changes and report them to your doctor quickly.
- Eat safely: Stick to well-cooked foods and avoid raw or undercooked meat, eggs, or unwashed produce during vulnerable times.
- Rest and hydrate: Get enough sleep, drink plenty of water, and reduce stress to help your immune system stay strong.
With proper daily care and regular medical support, most individuals with cyclic neutropenia can lead healthy and active lives.
Our Experience in Managing Cyclic Neutropenia
At Medicover Hospitals, we have successfully managed many patients with cyclic neutropenia, from early diagnosis in children to long-term care in adults. Our hematology team uses the latest tools for accurate diagnosis, including repeated CBC tests and ELANE gene testing, to confirm the condition.
We tailor treatment using G-CSF (filgrastim) to boost neutrophil counts and reduce the infectivity of infection. Our approach encompasses infection prevention, parent education, and regular monitoring, enabling patients to live full and active lives.
With our personalised care, we strive for early control, reduced hospital visits, and improved long-term outcomes.
