Does your child get sick often? It could be cyclic neutropenia.

Does your little one get a fever, mouth sores, or sore throat on the same days every month? Does one illness go away, only to return two or three weeks later? You might be thinking, "My child's immune system is weak." Yes, that might be true. But the reason behind this cyclical illness could be a very rare condition. Today, we're talking about one such condition, cyclic neutropenia.

Simply put, what is cyclic neutropenia?

To understand this, we first need to know about a soldier in our blood. That soldier's name is the neutrophil . This neutrophil is a type of white blood cell that protects us from disease by fighting germs, especially bacteria, that enter our bodies. It's like an army inside our bodies.

Neutropenia is when the number of neutrophil soldiers in the blood drops below normal levels. Just as an army becomes weaker when its soldiers are fewer, when neutrophils are fewer, our body's immune system becomes weaker and we start to get infections more easily.

Now let's look at the meaning of the word cyclic . Cyclic means "cyclical." This means that the neutrophil level is not always low. It goes up and down on a regular schedule, in a cycle. To be precise, usually every three weeks (about 21 days) , the neutrophil level drops significantly for three to five days. Then it returns to normal, and then drops again for the next three weeks. This cycle happens in a very predictable way.

This condition is extremely rare. Researchers say that only one in a million people in the world has this disease.

What are the symptoms of this disease?

The specialty of this disease is that the symptoms appear in accordance with the cycle of decreasing neutrophil levels. That is, these symptoms appear within three to four days of the decrease in neutrophils, and when the neutrophil levels return to normal, the symptoms disappear.

The nature of these symptoms can change throughout life. For many people, the severity of symptoms decreases as they reach adulthood . Mouth sores and dental problems are common in young people, while headaches and sinus infections (sinusitis) are more common in older people.

Why is this happening?

Cyclic neutropenia is caused by a genetic mutation . The main cause is a change in the ELANE gene in our body.

Think of a gene as a set of instructions that tell the cells in our body how to function. The ELANE gene contains instructions for making an enzyme that helps neutrophils function properly. When there is a defect or mutation in this gene, neutrophils cannot function properly.

This condition can be inherited from parents to children, or it can develop during the fetal stage.

Because of this genetic defect,

• The body may not produce enough neutrophils.
• Otherwise, the neutrophils may die quickly.
• Or the neutrophils may not function properly.

Doctor, how do you diagnose this?

These symptoms are usually visible from birth, so the disease is often diagnosed in infancy. The doctor considers several factors to confirm this disease.

• Family history of the disease: Since this is a hereditary condition, it is checked to see if anyone else in the family (parents, siblings) has this disease.
• Blood tests: This is the most important. Your doctor will check your neutrophil levels in your blood two to three times a week for about six weeks . This will be done to see if your neutrophil levels are cyclically decreasing.
• Pattern of symptoms: The doctor will carefully study the frequency of symptoms (about every 3 weeks). This cyclical pattern helps to distinguish this from other types of neutropenia.
• Genetic testing: Sometimes genetic testing may be recommended to confirm whether there is a mutation in the ELANE gene.

When diagnosing this condition, the doctor must rule out other types of neutropenia that have similar symptoms, such as `Severe congenital neutropenia` (formerly known as `Kostmann syndrome`), `Autoimmune neutropenia`, and `Idiopathic neutropenia`.

What are the treatments for this?

There are two main goals of treatment. One is to cure existing infections. The other is to increase neutrophil levels and prevent future infections.

Are there any side effects of the treatment?

G-CSF treatment can cause minor side effects. However, doctors usually start treatment for this disease with a low dose, so side effects are minimal.

• Headache
• Pain in bones and joints
• Nausea and diarrhea

Things like this can happen. Talk to your doctor carefully about the treatment you are receiving and its side effects.

What time should I call the doctor?

If you or your child has cyclic neutropenia, it is very important to seek medical advice as soon as you notice any signs of infection .

If you see any of these signs, see your doctor immediately. Don't hesitate to go to the Emergency Department (ETU) if necessary.

What should we do to protect ourselves from infections?

In addition to protecting yourself from infections, you also need to be careful when your neutrophil count is low.

• Always wash your hands thoroughly, especially before eating and after using the toilet.
• Maintain good oral health. Brush your teeth daily and see a dentist regularly .
• Get all recommended vaccinations on time.
• Avoid touching your face, eyes, and nose without washing your hands.
• Take your medications exactly as prescribed by your doctor and have your blood tests done on time.

Although this condition is lifelong, successful treatments such as G-CSF have now allowed many people with cyclic neutropenia to live completely normal lives . Importantly, while some other types of neutropenia carry a risk of developing cancer, such as leukemia, cyclic neutropenia does not.