Cyclic Neutropenia: Causes, Diagnosis and Treatment

Introduction

Neutropenia refers to abnormally lower levels of white blood cells in the blood. A neutrophil (polymorphonuclear leukocyte) is a type of white blood cell synthesized in the bone marrow. The white blood cells are mainly responsible for fighting infections in the body. A decrease in the count of neutrophils makes a person more susceptible to infections.

What Is Cyclic Neutropenia?

Cyclic neutropenia is a blood disorder characterized by repeated infections and other health diseases in the affected individuals. People suffering from this condition have repeated episodes of neutropenia, during which there is a deficiency in the count of neutrophils. The bone marrow synthesizes neutrophils. It is a type of white blood cell that plays a primary role in inflammation and fighting against infections. The episodes of neutropenia appear at birth or soon afterward. However, for most affected individuals, the attacks of neutropenia repeat every 21 days and usually last for about three to five days.

This disease makes it tougher for the patient’s body to fight against infectious agents such as bacteria and viruses. Therefore, people with cyclic neutropenia develop repeated sinuses, the pulmonary tract, and skin infections. In addition, people suffering from this condition often develop open mouth ulcers, sores in the colon, throat inflammation (pharyngitis) and gingivitis (inflammation of the gums), repeated fever, or pain in the abdomen. However, people suffering from cyclic neutropenia suffer from these health problems only during the recurrent episodes of neutropenia. When their neutrophil counts are normal, the increased risk of infection and inflammation is reduced largely.

What Is the Cause of Cyclic Neutropenia?

Cyclic neutropenia can be acquired later in life or present from birth. Usually, the condition is present soon after birth. It is mainly caused by a genetic mutation in a gene Elane that is responsible for synthesizing an enzyme to fight infection. The symptoms of neutropenia occur when the bone marrow does not generate enough neutrophils, when the neutrophils perish early, or when these white blood cells do not function correctly. It is an autosomal dominant disease.

What Is the Epidemiology of Cyclic Neutropenia?

Cyclic neutropenia is a rare disorder estimated to develop in one to two cases per one million individuals worldwide. Both males and females are equally susceptible to the disorder.

What Are the Symptoms of Cyclic Neutropenia?

• Tiredness.

• High fever.

• Mouth sores.

• Recurring gingival problems and mobile (loose) teeth.

• Sore throat.

• Skin Infections.

• Respiratory infections.

• Gastrointestinal infections.

• The feeling of sickness.

How Is Cyclic Neutropenia Diagnosed?

It is crucial to have a correct family history to diagnose cyclic neutropenia disorder because it is mainly hereditary. Genetic tests might be ordered by the healthcare professional to evaluate any genetic mutations. The healthcare professional may also order blood tests to check the levels of white blood cells two to three times every week for approximately six weeks or more.

What Are the Treatments for Cyclic Neutropenia?

The treatment for cyclic neutropenia includes:

• Medicines like antibiotics treat various pathogenic infections.

• Granulocyte colony-stimulating factor (G-CSF) is a glycoprotein that may be used to stimulate the bone marrow to synthesize granulocytes (neutrophils) and stem cells. They are later released into the bloodstream.

• Bone marrow transplantation is sometimes needed but is generally opted for when the patient affected with cyclic neutropenia does not respond to other available treatment modalities or develops malignancy.

What Are the Complications of the Treatment of Cyclic Neutropenia?

The person might be hypersensitive to any type of drug. The person may develop various signs of allergy, including skin rashes or swelling, respiratory difficulties, and low blood pressure (hypotension).

Antibiotics may also have minor side effects, such as diarrhea or fungal infections. The side effects of the granulocyte colony-stimulating factor injection may include the following:

• Headaches.

• Arthralgia (joint pain).

• Bone pain.

• Renal problems.

• Acute respiratory distress syndrome (a disorder where the fluid collects in the lung’s alveoli, depriving the body organs of oxygen).

• Splenic rupture.

• Sickle cell disorder (sickle cell anemia) in a few individuals is a disease crisis.

The patient should immediately consult a doctor in case of a medical emergency.

How to Prevent Cyclic Neutropenia?

The condition of cyclic neutropenia cannot be prevented. In the case of the patient's family history, the healthcare professional may suggest the patient seek advice from a genetic counselor.

What Is the Prognosis for Patients Affected With Cyclic Neutropenia?

The prognosis is usually good for these patients. Still, a few genetic mutations have been associated with a complication of developing leukemia (blood cancer) or other blood-related (hematological) tumors.

Conclusion

Cyclic neutropenia is a rare hematological disorder characterized by repetitive episodes of abnormally reduced counts of white blood cells (neutrophils) in the body. The recurrent attacks of the condition usually repeat every 21 days. Hence, the name is cyclic neutropenia. It is usually inherited, and the diagnosis is based on family history. The disease cannot be prevented, but genetic counseling can help the patient better understand the pathogenesis of the disease. Treatment is decided by the doctor based on the severity of the symptoms. The prognosis is, however, good for these patients.