Cyclic Neutropenia

Cyclic neutropenia involves having lower-than-normal levels of neutrophils (a type of white blood cell) in your blood. But the low levels occur periodically, not all the time. Neutrophils are important because they help fight infection. A shortage of neutrophils, or neutropenia, makes it hard for your immune system to fight bacteria or viruses that can make you sick.

Cyclic neutropenia differs from other forms of neutropenia in that, neutrophil levels drop and then return to normal on a fairly consistent, predictable schedule. Neutrophil levels drop for about three to five days before returning to normal. They drop again around every three weeks.

Researchers estimate that only about 1 in every 1 million people has this rare condition. If you’re one of them, you’ll work with a blood disease specialist called a hematologist. They’ll keep tabs on your neutrophil levels to keep you safe.

Symptoms of cyclic neutropenia

With cyclic neutropenia, symptoms show up on a regular schedule. When your neutrophils are low, your immune system has a hard time fighting infections. This is when symptoms appear. They include:

• Fatigue
• Fever
• Headaches
• Dental issues (like inflamed, bleeding or swollen gums)
• Mouth sores
• Skin pain or rash
• Sore throat
• Swollen lymph nodes

Your symptoms — including how severe they are — can change over time. Often, symptoms get milder after puberty. Adolescents and young adults are more likely to have dental issues, like gum disease and mouth sores. Adults more often get headaches and frequent sinus infections.

Cyclic neutropenia causes

Most people with cyclic neutropenia inherit a variant of the ELANE gene. You only need to inherit the gene from one biological parent to have the condition. The ELANE gene tells neutrophils how to make an enzyme that fights infections. But the variant gene doesn’t always work as well.

Your body still makes neutrophils that protect you. But the ELANE gene variant causes some of them to die too soon. This creates a gap period when your levels are low while your body makes new neutrophils. This is likely why low levels happen in a cycle. 

Some people with cyclic neutropenia are born with a normal ELANE gene. But then it changes (mutates) at some point in their lifetime. Researchers aren’t sure why.

Complications of this condition

Having a weakened immune system increases your risk of all infections. Minor infections can become serious without enough neutrophils to protect you.

Treatment that keeps your neutrophil counts at safe levels helps prevent this.

How doctors diagnose this condition

Healthcare providers diagnose most people in infancy. Your provider may suspect cyclical neutropenia if you have a family history of it.

You’ll need a blood test to see if your neutrophils are low. Low levels are less than 200 neutrophils per microliter of blood. You may need a genetic test to see if you have an atypical ELANE gene.

But low neutrophil levels and the gene mutation can happen in other forms of neutropenia, too. To see if you have the cyclic type of this condition, your provider may measure your neutrophil counts two to three times per week. They may do this for about six weeks. They’ll see if your symptoms appear and disappear on a cycle.

How is cyclic neutropenia treated?

Treatment involves curing any infections and boosting your neutrophils to healthy levels to prevent future infections.

Treatments include:

• Antibiotics: Antibiotics fight bacteria that cause infections.
• Granulocyte colony-stimulating factor (G-CSF): G-CSF treatments, like filgrastim (Neupogen®), help your body make more neutrophils. G-CSF is a safe, effective, long-term treatment for cyclic neutropenia.
• Stem cell transplant: Stem cells eventually mature into healthy blood cells, like neutrophils. A stem cell transplant replaces your unhealthy neutrophil cells with healthy ones. Almost all people don’t need stem cell transplants to treat cyclic neutropenia. Still, you may need this procedure if your symptoms are severe and you don’t respond to G-CSF.

What are the side effects of cyclic neutropenia treatments?

Antibiotics may cause minor side effects, like diarrhea or nausea.

The most common side effect of G-CSF is temporary bone pain. This is because the shot causes your bone marrow (where blood cells get made) to make more neutrophils. But G-CSF side effects vary based on the type of medicine and the dosage.

Often, healthcare providers manage the condition with low doses of G-CSF that only cause mild side effects.

When should I see my healthcare provider?

Call your provider if you have a fever of 100.4 degrees Fahrenheit (38 degrees Celsius) or more that lasts longer than an hour. Fevers are common in most people and usually aren’t cause for concern. But they can be a sign of a serious infection if you have neutropenia.

Seek emergency care if you have a fever along with symptoms like:

• A fast heartbeat
• Belly pain or tenderness
• Confusion or a change in mental status
• Fast and shallow breathing
• Shaking chills
• Vomiting

This may be a sign of a serious infection that requires immediate care.

What can I expect if I have cyclic neutropenia?

There isn’t a cure for cyclic neutropenia. But the prognosis (outlook) is excellent with the right treatment. Your healthcare provider will likely check your neutrophil counts every few months or so. You may need regular G-CSF injections so your body makes enough neutrophils to protect you.

But cyclic neutropenia doesn’t have to keep you from living a healthy life.

Is there anything I can do to feel better?

You can likely do all the same things that people without neutropenia do. But you may just have to take some extra care to keep from getting sick.

It’s essential that you follow your treatment plan. You may also need to:

• Avoid large crowds if your numbers are low.
• Clean surfaces you touch often.
• Get recommended vaccines.
• Take care not to consume spoiled food or drinks.
• Wash your hands often.

Don’t skip dentist visits or skimp on brushing and flossing either. Good oral hygiene can help prevent symptoms of cyclic neutropenia that affect your teeth and gums.