D70.0 Congenital agranulocytosis

Name of the Condition

• Congenital agranulocytosis

Summary

Congenital agranulocytosis is a rare genetic disorder characterized by a severe deficiency or absence of neutrophils, a type of white blood cell essential for fighting infections. This condition increases susceptibility to bacterial and fungal infections, particularly in the skin, respiratory tract, and gastrointestinal system. It is present at birth and persists throughout life.

Causes

Congenital agranulocytosis is caused by genetic mutations that affect the production or function of neutrophils. These mutations are typically inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene for a child to be affected. The specific genes involved may vary, but they often disrupt the maturation or survival of neutrophil precursors in the bone marrow.

Risk Factors

• Family history of congenital agranulocytosis or related immune disorders
• Consanguineous relationships (parents who are blood relatives)
• Inheritance of two mutated copies of the responsible gene

Symptoms

• Frequent, severe bacterial or fungal infections (e.g., pneumonia, skin abscesses)
• Fever and chills
• Mouth ulcers or gum infections
• Slow wound healing
• Fatigue or lethargy
• Recurrent respiratory infections

Diagnosis

Diagnosis is confirmed through blood tests showing extremely low or absent neutrophil counts. A complete blood count (CBC) with differential is typically the first step. Additional tests, such as bone marrow aspiration or genetic testing, may be performed to identify the underlying mutation and rule out other causes of neutropenia. Clinical evaluation of infection history and family medical records also supports diagnosis.

Treatment Options

Treatment focuses on managing infections and supporting neutrophil function. This may include:

• Antibiotics or antifungal medications to treat active infections
• Granulocyte colony-stimulating factor (G-CSF) to stimulate neutrophil production
• Prophylactic antibiotics to prevent recurrent infections
• In severe cases, hematopoietic stem cell transplantation may be considered

Prognosis and Follow-Up

With appropriate treatment, many individuals with congenital agranulocytosis can lead relatively normal lives, though they remain at increased risk for infections. Regular monitoring of blood counts and prompt treatment of infections are critical. Long-term follow-up with a hematologist or immunologist is recommended to adjust therapies and address complications.

Complications

• Life-threatening infections (e.g., sepsis)
• Chronic or recurrent infections leading to organ damage
• Delayed growth or development in children
• Increased risk of certain cancers (e.g., leukemia) in rare cases

Lifestyle & Prevention

• Practice strict hygiene to reduce infection risk (e.g., handwashing, avoiding sick contacts)
• Avoid activities that may cause injury or infection (e.g., contact sports)
• Stay up-to-date with vaccinations (as recommended by a healthcare provider)
• Maintain a balanced diet to support overall health

When to Seek Professional Help

Seek immediate medical attention if you experience:

• High fever or chills
• Signs of infection (e.g., redness, swelling, pus)
• Unusual fatigue or weakness
• Difficulty breathing or persistent cough

Tips for Medical Coders

When coding for congenital agranulocytosis (ICD10CM code D70.0), ensure documentation supports the diagnosis, including laboratory results confirming neutropenia and any associated infections. Note the congenital nature of the condition and any genetic testing or family history details. Avoid using this code for acquired neutropenia or other causes of low neutrophil counts.