What are the symptoms of human cyclic neutropenia?

Human cyclic neutropenia is a rare disorder characterized by recurrent episodes of abnormally low levels of neutrophils, a type of white blood cell that helps the body fight off infections. The main symptom of cyclic neutropenia is recurring episodes of fever, mouth sores, sore throat, and skin infections. Other symptoms may include:

1. Fatigue
2. Malaise
3. Weight loss
4. Swollen lymph nodes
5. Bone pain

These symptoms typically occur in cycles, with periods of low neutrophil counts (neutropenia) followed by periods of normal or elevated neutrophil counts. The cycles usually last around 21 days but can vary from person to person.

Cyclic neutropenia is usually diagnosed based on a history of recurring symptoms and blood tests that show a pattern of cyclic changes in neutrophil counts. Treatment may include medications to stimulate the production of neutrophils, antibiotics to prevent infections, and treatment of any underlying conditions that may be contributing to the neutropenia.

What are the causes of human cyclic neutropenia?

Human cyclic neutropenia is usually caused by mutations in the ELANE gene, which provides instructions for making an enzyme called neutrophil elastase. Neutrophil elastase plays a role in the maturation and function of neutrophils, a type of white blood cell involved in the immune response.

Mutations in the ELANE gene can lead to the production of a defective neutrophil elastase enzyme, which can disrupt the normal development and function of neutrophils. This can result in episodes of abnormally low levels of neutrophils, known as neutropenia, which can lead to an increased risk of infections.

In some cases, the cause of cyclic neutropenia may be unknown (idiopathic). Other factors, such as infections, medications, or stress, can also contribute to the development of neutropenia or trigger episodes of low neutrophil counts in people with cyclic neutropenia.

What is the treatment for human cyclic neutropenia?

The treatment for human cyclic neutropenia aims to manage symptoms, prevent infections, and reduce the frequency and severity of neutropenic episodes. Treatment may include:

1. Granulocyte colony-stimulating factor (G-CSF) therapy: G-CSF is a medication that stimulates the bone marrow to produce more neutrophils. It is typically given as an injection under the skin or into a vein and can help reduce the frequency and severity of neutropenic episodes.
2. Antibiotic prophylaxis: Some people with cyclic neutropenia may benefit from taking antibiotics regularly to prevent infections. This is especially important for those who have frequent or severe infections.
3. Monitoring and managing infections: It’s important for people with cyclic neutropenia to be vigilant for signs of infection and seek prompt medical attention from a healthcare provider if an infection occurs. Infections should be treated promptly with appropriate antibiotics.
4. Avoiding triggers: Certain factors, such as infections, medications, or stress, can trigger neutropenic episodes. Taking steps to avoid these triggers can help reduce the frequency of episodes.
5. Regular monitoring: People with cyclic neutropenia should have regular blood tests to monitor their neutrophil counts and overall health. This can help identify neutropenic episodes early and guide treatment decisions.
6. Bone marrow transplant: In severe cases of cyclic neutropenia that do not respond to other treatments, a bone marrow transplant may be considered. This procedure involves replacing the bone marrow, which is responsible for producing blood cells, with healthy donor marrow.

Treatment for cyclic neutropenia is typically managed by a hematologist, who specializes in blood disorders. The specific treatment plan will depend on the individual’s symptoms, medical history, and overall health.