Neutropenia, severe chronic

Severe Chronic Neutropenia is a rare hematological disorder characterized by an abnormally low number of neutrophils, a type of white blood cell, in the blood. Neutrophils play a crucial role in the body's defense against infections; therefore, individuals with severe chronic neutropenia are more susceptible to frequent and severe infections.

Causes

Severe chronic neutropenia can be caused by a variety of factors, including genetic conditions, autoimmune diseases, and certain medications. It can be classified into several types based on its cause, including:

• Congenital neutropenia, which includes genetic disorders such as Kostmann Syndrome and mutations in the ELANE gene.
• Autoimmune neutropenia, where the body's immune system mistakenly attacks and destroys neutrophils.
• Cyclic neutropenia, characterized by periodic decreases in neutrophil counts, often every three weeks, due to a mutation in the ELANE gene.

Symptoms

The primary symptom of severe chronic neutropenia is an increased susceptibility to infections. These infections can be more severe and occur more frequently than in individuals with normal neutrophil counts. Symptoms of infections may include fever, sore throat, mouth ulcers, abscesses, and other signs of bacterial infection.

Diagnosis

Diagnosis of severe chronic neutropenia involves a complete blood count (CBC) to measure the number of neutrophils in the blood. A count of fewer than 1500 neutrophils per microliter of blood is generally considered neutropenia, but in cases of severe chronic neutropenia, counts may be significantly lower. Further diagnostic tests may include bone marrow biopsies and genetic testing to identify the underlying cause.

Treatment

Treatment for severe chronic neutropenia focuses on managing symptoms and preventing infections. Strategies may include:

• Antibiotic prophylaxis to prevent bacterial infections.
• Granulocyte colony-stimulating factor (G-CSF), such as filgrastim, to stimulate the production of neutrophils.
• Bone marrow or stem cell transplantation in cases where other treatments are ineffective and the condition is life-threatening.

Prognosis

The prognosis for individuals with severe chronic neutropenia varies depending on the underlying cause and the effectiveness of treatment. With appropriate management, many individuals can lead relatively normal lives, although they may require ongoing treatment to maintain healthy neutrophil levels and prevent infections.