What Is Cyclic Neutropenia?

Cyclic neutropenia is a rare blood disorder that causes changes in the levels of neutrophils in your blood. Neutrophils are white blood cells that your bone marrow produces to protect your body from infection. 

People with cyclic neutropenia experience cycles of very low neutrophil levels followed by normal levels. The cycles usually last about three weeks. During periods of low neutrophil levels, it's common to experience symptoms like fever and loss of appetite, and there is a heightened risk of infection. 

This condition is rare and affects about one in 1 million people worldwide. A hematologist (a medical doctor who specializes in the treatment of blood disorders) usually treats cyclic neutropenia with antibiotics, supportive therapies, and lifestyle changes. 

Types of Chronic Neutropenia 

Neutropenia occurs when your body does not have enough neutrophils to fight off infection. There are different types of chronic neutropenia including:

• Congenital neutropenia: The condition is present at birth
• Idiopathic neutropenia: The exact cause of the condition is unknown
• Cyclic neutropenia: There are periods of neutropenia followed by periods of normal neutrophil levels
  

Symptoms

Cyclic neutropenia usually causes symptoms during periods of low neutrophil levels. Each cycle lasts around 21 days. During this 21-day cycle, you'll likely experience a low neutrophil count for about three to five days. 

Having a low neutrophil count makes it difficult for your body to fight infections. People with neutropenia are at an increased risk of infections in the skin, digestive tract, and respiratory system. 

During a period of low neutrophil levels, you may experience symptoms like:

• Fever
• Malaise, or a general feeling of being unwell
• Gingivitis, or inflammation in the mouth and gums
• Pharyngitis, or inflammation in the throat
• Mouth ulcers or sores
• Tonsillitis, or inflammation of the tonsils
• Skin infections 
• Recurrent respiratory (lung-related) infections 
• Swollen lymph nodes 
• Loss of appetite 
  

Causes

Cyclic neutropenia occurs when there are changes or fluctuations in the levels of neutrophils in your blood. When your neutrophil count is too low, your immune system cannot fight invading microorganisms (harmful cells or agents), and your risk of infection increases. 

This condition is hereditary and can be passed down from parent to child. The gene mutation that causes cyclic neutropenia is called the ELANE gene. This gene is responsible for providing instructions to your cells on how to make a protein called neutrophil elastase. This protein is found inside neutrophils and is released when neutrophils detect harmful bacteria and viruses. 

It's worth noting that cyclic neutropenia is an autosomal dominant disease—meaning, that each parent provides one copy of the ELANE gene for a child. If one of the ELANE genes has this mutation, a child can develop cyclic neutropenia. While cyclic neutropenia is rare, the condition affects people assigned male and female at birth equally and is usually present at birth. 

Diagnosis

Because cyclic neutropenia is an inherited disorder and is usually present at birth, a healthcare provider may be able to test for the condition shortly after childbirth. Your primary care provider will often work with a hematologist to diagnose cyclic neutropenia. They will look for symptoms, take blood tests to check for white blood cell levels, and ask about your family history. Your healthcare team may use the following diagnostic tests:

• Complete blood count (CBC): Checks the levels of white blood cells and neutrophils 
• Bone marrow biopsy: Examines the bone marrow to help determine the cause of neutropenia
• Tumor markers: Rules out cancer 
• Cytokine testing: Determines if the cytokines (proteins that control the growth and function of white blood cells) are functioning normally
• Chest X-ray: Helps diagnose a respiratory infection
• Genetic testing: Takes a sample of DNA to check for gene mutations
  

Treatment

Unfortunately, there is no cure for cyclic neutropenia, but treatment options can help you manage the condition and reduce symptoms. Generally, your hematologist and primary care provider will work with you to develop a treatment plan that meets your needs. Treatments for cyclic neutropenia include:

• Antibiotic therapy: Medications that help prevent and treat infections 
• Corticosteroids: Drugs that can lower inflammation caused by infections 
• Oral and dental care: Regular check-ups can reduce the risk of infection in your gums and throat
• Granulocyte-colony stimulating factor (G-CSF): Injections that help stimulate the bone marrow to make more neutrophils 
• Immunoglobulin therapy: Intravenous (IV) injections that can boost your body’s immune response to infections 
• Hematopoietic stem cell transplantation: Procedure that supports bone marrow function

Alongside these treatments, your healthcare team may also recommend routine blood tests to check your neutrophil levels and genetic counseling to understand your risk of passing on the mutated ELANE gene to your offspring if you choose to have children. Your providers may also suggest avoiding any activities that could lead to injury, as injuries can raise your risk of infections.

How to Prevent Cyclic Neutropenia 

Because cyclic neutropenia is an inherited disorder, there is no way to prevent the condition. If you have a family history of cyclic neutropenia and are considering becoming a parent, your healthcare provider may recommend genetic counseling to understand your risk and how to move forward. 

Complications

Cyclic neutropenia raises the risk of infection because your body does not have enough neutrophils to fight off bacteria, viruses, fungi, and other pathogens (harmful cells). Children with cyclic neutropenia often experience recurrent fevers. Fortunately, most adults with the condition outgrow this complication. 

However, adults with cyclic neutropenia are at risk of the following long-term complications:

• Spontaneous peritonitis: Infection or swelling of the lining of the abdomen, which can potentially be life-threatening after you experience an infection
• Segmental bowel necrosis: Tissue death in your intestines due to a lack of blood flow, which can occur if you have an infection in your digestive system
• Septicemia: Also known as sepsis, which is a serious infection that occurs when bacteria enter your bloodstream

Living With Cyclic Neutropenia 

While cyclic neutropenia is not curable, fortunately, the condition can be well-managed with treatment. Talk with your hematologist about the best treatment plan for you, as it's important to work closely with your healthcare team and see them regularly for blood testing. 

Your hematologist can also help you recognize signs of infection and when to call them for additional treatment. Because cyclic neutropenia is a rare disorder, you may feel alone on this journey from time to time. If the emotional effects of this health condition are weighing on you, your healthcare team can put you in contact with support groups or a licensed professional to support your mental health.