How Is Neutropenia Diagnosed and What Are the Causes?

Neutropenia is a medical condition characterized by an unusually low number of neutrophils in the blood. Neutrophils are a type of white blood cell that play a role in the body’s immune system. These cells identify, engulf, and digest invading microorganisms like bacteria and fungi, forming an important part of the body’s initial defense against infection.

A reduced neutrophil count can compromise the body’s ability to fight off infections, increasing the risk of frequent or severe illnesses.

Recognizing the Need for Diagnosis

Neutropenia itself often does not cause direct symptoms. Instead, signs prompting a doctor’s visit relate to increased susceptibility to infections. Individuals might experience frequent or unusually severe infections, such as persistent mouth sores, skin infections that do not heal, or recurrent fevers.

Other indicators can include fatigue or a feeling of overall unwellness. When these symptoms arise, a healthcare provider takes a thorough medical history. This includes inquiring about recent infections, medications, and any family history of blood disorders.

A physical examination is also conducted to look for visible signs of infection, such as inflamed gums, swollen lymph nodes, or persistent rashes. These initial steps help determine if neutropenia is present and guide further testing.

Essential Blood Tests

The primary diagnostic tool for identifying neutropenia is a common blood test, the Complete Blood Count (CBC) with differential. This test provides an overview of the different types of cells circulating in your blood, including red blood cells, white blood cells, and platelets.

The differential part of the CBC specifically measures the percentages of each white blood cell type, including neutrophils. From these measurements, an Absolute Neutrophil Count (ANC) is calculated. The ANC represents the actual number of neutrophils present in a microliter of blood, providing an indication of the body’s immediate infection-fighting capacity. A normal ANC for a healthy adult typically ranges from 1,500 to 8,000 cells per microliter.

Neutropenia is diagnosed when the ANC falls below 1,500 cells/µL. Severity is categorized based on the ANC value:

  • Mild neutropenia: ANC between 1,000 and 1,500 cells/µL
  • Moderate neutropenia: ANC between 500 and 1,000 cells/µL
  • Severe neutropenia: ANC below 500 cells/µL
  • Profound neutropenia: ANC below 100 cells/µL

Lower ANC levels generally correlate with a higher risk of infection. Repeat blood tests are often necessary to confirm the low neutrophil count is persistent rather than a temporary fluctuation.

Further Diagnostic Investigations

Sometimes, initial blood tests may not provide a complete picture, or the underlying cause of neutropenia remains unclear. In such cases, a bone marrow biopsy and aspiration might be performed. This procedure involves taking a small sample of bone marrow, typically from the hip bone, for microscopic examination.

The bone marrow is where blood cells, including neutrophils, are produced. Examining the marrow can reveal if the body is producing enough neutrophils, if abnormal cells are present, or if there are issues with the marrow’s structure. This analysis helps distinguish between problems with neutrophil production and issues related to their destruction or abnormal distribution.

Additional specialized blood tests may also be ordered depending on the suspected cause. These can include tests for specific infections, such as viral panels for HIV or hepatitis. Autoimmune markers might be checked if an autoimmune condition is suspected, as these can lead to the immune system attacking healthy neutrophils. Tests for nutritional deficiencies, such as vitamin B12, folate, or copper, can also be conducted since inadequate levels of these nutrients can impact blood cell production.

Determining the Root Cause

Diagnosing neutropenia extends beyond merely confirming a low neutrophil count; identifying the underlying reason for this reduction is important. This knowledge is fundamental for guiding appropriate treatment and management strategies.

Neutropenia can stem from various sources. Common categories include infections, where viral or bacterial pathogens can temporarily suppress neutrophil production or increase their destruction. Certain medications, notably chemotherapy, but also some antibiotics and other drugs, are known to cause neutropenia as a side effect.

Autoimmune diseases, such as lupus or rheumatoid arthritis, can trigger the immune system to attack and destroy neutrophils. Disorders of the bone marrow, like leukemia or aplastic anemia, directly impair the production of these cells. Nutritional deficiencies, particularly those involving vitamin B12 or folate, and certain genetic conditions can also contribute to low neutrophil counts.

A comprehensive evaluation, involving reviewing medication and family history, along with specific genetic testing or imaging, helps pinpoint the precise cause, enabling tailored therapeutic interventions.