Pancytopenia

Specialties > Child health

Background knowledge 🧠

Definition

Pancytopenia refers to a reduction in all three blood cell lines: red blood cells (anaemia), white blood cells (leukopenia), and platelets (thrombocytopenia).
Represents a broad spectrum of underlying pathologies, ranging from benign to life-threatening.

Epidemiology

Pancytopenia is relatively uncommon but can be seen across all age groups.
Incidence varies based on the underlying cause (e.g., more common in aplastic anaemia, leukaemia).
Geographical variations exist; certain aetiologies are more prevalent in specific regions.

Aetiology and Pathophysiology

Bone marrow failure (e.g., aplastic anaemia, myelodysplastic syndromes).
Infiltration of bone marrow by malignancies (e.g., leukaemia, lymphoma, metastatic cancer).
Infectious causes (e.g., HIV, hepatitis, tuberculosis).
Medications and toxins (e.g., chemotherapy, benzene exposure).
Autoimmune disorders (e.g., systemic lupus erythematosus).
Hypersplenism causing peripheral destruction.

Types

Primary (e.g., inherited bone marrow failure syndromes).
Secondary (e.g., acquired conditions like aplastic anaemia, bone marrow infiltration).
Transient (e.g., due to temporary bone marrow suppression from infection or drugs).

Clinical Features 🌡️

Symptoms

Fatigue, pallor, and weakness due to anaemia.
Frequent infections, fevers due to leukopenia.
Easy bruising, petechiae, or bleeding tendencies due to thrombocytopenia.
Dyspnoea, particularly on exertion, in severe cases.
Symptoms of underlying conditions (e.g., night sweats, weight loss in malignancies).

Signs

Pallor, particularly of the conjunctiva and skin.
Petechiae, purpura, or ecchymoses.
Hepatosplenomegaly in cases with infiltrative or hypersplenic causes.
Lymphadenopathy in malignancies or infections.
Fever in cases with concurrent infection.

Investigations 🧪

Tests

Full blood count (FBC) showing reductions in haemoglobin, white cells, and platelets.
Peripheral blood smear for morphological abnormalities.
Bone marrow biopsy to assess cellularity, presence of malignancy, or fibrosis.
Serological tests for infections (e.g., HIV, hepatitis).
Imaging studies (e.g., CT scan) if malignancy or splenic involvement is suspected.
Flow cytometry for assessment of haematological malignancies.

Management 🥼

Management

Treatment of underlying cause (e.g., immunosuppression in autoimmune conditions, chemotherapy for malignancies).
Supportive care (e.g., transfusions of red cells or platelets).
Antibiotic prophylaxis or treatment for infections.
Growth factor support (e.g., G-CSF for neutropenia).
Bone marrow or stem cell transplantation in suitable cases.
Monitoring for complications like bleeding or severe infections.

Complications

Severe infections due to prolonged neutropenia.
Severe bleeding episodes, particularly intracranial or gastrointestinal.
Iron overload from repeated transfusions.
Transformation to acute leukaemia in some haematological disorders.
Graft-versus-host disease (GVHD) post-transplant.

Prognosis

Highly variable depending on the underlying cause and response to treatment.
Poor prognosis in untreated or refractory cases, particularly malignancies.
Better outcomes with early diagnosis and targeted therapy.
Long-term survival possible in cases managed with bone marrow transplantation.

Key Points

Pancytopenia is a clinical finding, not a diagnosis, requiring thorough investigation.
Management depends on identifying and treating the underlying cause.
Early recognition and intervention are crucial for improving outcomes.
Requires a multidisciplinary approach including haematology, oncology, and infectious disease specialists.
Patient monitoring and supportive care are essential to managing complications.

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