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