From the Guidelines
The initial workup for pancytopenia should include a thorough history, physical examination, and laboratory testing to determine the underlying cause, starting with a complete blood count with differential, peripheral blood smear, reticulocyte count, comprehensive metabolic panel, and coagulation studies 1. Begin with the following tests:
- Complete blood count with differential
- Peripheral blood smear
- Reticulocyte count
- Comprehensive metabolic panel
- Coagulation studies Additional testing should include:
- Vitamin B12, folate, and iron studies to rule out nutritional deficiencies
- Bone marrow aspiration and biopsy are often necessary to evaluate for primary bone marrow disorders such as aplastic anemia, myelodysplastic syndrome, leukemia, or infiltrative processes 1. Management depends on the underlying cause but generally involves treating the primary condition, discontinuing potentially causative medications, and providing supportive care. Supportive measures include:
- Transfusion of blood products (packed red blood cells for symptomatic anemia, platelets for counts below 10,000/μL or bleeding, and occasionally granulocyte transfusions for severe neutropenia with infection)
- Infection prophylaxis with antibiotics for neutropenic patients (such as levofloxacin 500 mg daily)
- Growth factors like filgrastim (G-CSF) at 5-10 μg/kg/day subcutaneously for severe neutropenia Patients with severe pancytopenia should be hospitalized, especially if they have fever or active bleeding. The definitive treatment varies widely based on etiology—immunosuppressive therapy for autoimmune causes, hematopoietic stem cell transplantation for aplastic anemia, chemotherapy for malignancies, or simply stopping the offending medication in drug-induced cases. In patients with pancytopenia and an active uncontrolled infection, treatment with a purine analog-based regimen may be associated with prolonged granulocytopenia, and alternative regimens such as BRAF inhibitors may be considered to improve hematologic parameters and enable control of infection 1.
From the Research
Initial Workup for Pancytopenia
The initial workup for a patient with pancytopenia involves a comprehensive approach to identify the underlying cause. Key steps include:
- Complete blood count (CBC) and peripheral blood smear to confirm pancytopenia 2, 3
- Bone marrow aspiration and biopsy to evaluate the bone marrow and identify potential causes such as aplastic anemia, myelodysplastic syndrome, or leukemia 2, 3, 4
- Clinical correlation with patient history, physical examination, and laboratory findings to guide further investigations 2, 5
Diagnostic Algorithm
A diagnostic algorithm for pancytopenia may involve the following steps:
- Initial evaluation with CBC, peripheral blood smear, and bone marrow biopsy 3, 4
- Special stains and molecular studies as needed to diagnose specific conditions such as myelodysplastic syndrome or leukemia 6
- Clinical follow-up and repeat biopsy if necessary to establish a definitive diagnosis 3
Common Causes of Pancytopenia
Common causes of pancytopenia include:
- Aplastic anemia 2, 4
- Myelodysplastic syndrome 3
- Leukemia (acute or chronic) 3, 4
- Myelofibrosis 2
- Lymphoid neoplasia 2
- Iron deficiency anemia 2
- Drug-induced pancytopenia 5
- Infections such as tuberculosis or HIV 5
- Autoimmune disorders such as systemic lupus erythematosus 5
Role of Bone Marrow Biopsy
Bone marrow biopsy plays a crucial role in the diagnosis and management of pancytopenia, as it allows for the evaluation of bone marrow morphology and the identification of underlying causes 2, 3, 4, 6. The biopsy can be performed simultaneously with bone marrow aspiration to provide a comprehensive assessment of the bone marrow 2.