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Severe Congenital Neutropenia

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Severe Congenital Neutropenia

  • See Also
  1. Neutropenia
  2. Neutropenia Causes
  • Epidemiology
  1. Incidence: 10-15 cases per 1 million live births
  2. Age of diagnosis as infant or young child
  • Findings
  1. Failure to Thrive
  2. Recurrent infections involving the skin and mucous membranes
    1. Often severe, life-threatening
  • Labs
  1. Complete Blood Count
    1. Severe Neutropenia (ANC <500/uL)
  • Associated Conditions
  1. Hematologic Malignancy (10-40% lifetime risk)
    1. Myelodysplasia
    2. Acute Myelogenous Leukemia
  2. Conditions with skeletal abnormalities
  3. Organomegaly Syndromes
    1. Wiskott-Aldrich Syndrome
    2. Kostman Syndrome
    3. Shwachman-Diamond Syndrome
  • Management
  1. General prevention of infections
    1. Good hygiene practices
    2. Lifestyle modifications to reduce infection risk
  2. Granulocyte Colony Stimulating Factor (G-CSF)
    1. Filgrastim (Neupogen)
    2. Pegfilgrastim (Neulasta)
    3. Sargramostim
  3. Consider Hematopoietic Stem Cell Transplant (HSCT)
  4. Surveillance for Hematologic Malignancy
  5. Antibiotic Prophylaxis
    1. Indications: Primary Antibiotic prophylaxis
      1. High risk patients
      2. Includes patients with >=20% risk of Febrile Neutropenia
    2. Indications: Secondary Antibiotic prophylaxis
      1. Neutropenic complications from prior Chemotherapy
      2. High risk for Febrile Neutropenia
      3. Severe prolonged Neutropenia (ANC <100 uL for >=7 days)
    3. Prophylaxis protocol
      1. Fluoroquinolone (e.g. Levofloxacin) AND
      2. Antifungal (select one)
        1. Oral Triazole Antifungal (e.g. Fluconazole, Itraconazole, and Voriconazole)
        2. IV Echinocandin (e.g. Caspofungin, Micafungin)
  • References
  1. Kim (2025) Am Fam Physician 112(6): 618-28 [PubMed]