Pancytopenia

Definition | Aetiology | Pathophysiology | Risk Factors | Signs and Symptoms | Investigations | Management

Definition

Pancytopenia is a haematological condition characterised by a reduction in all three blood cell lines: red blood cells (anaemia), white blood cells (leukopenia), and platelets (thrombocytopenia).

Aetiology

  • Bone marrow failure: aplastic anaemia, myelodysplastic syndromes, leukaemia.
  • Bone marrow infiltration: metastatic cancer, lymphoma, myelofibrosis.
  • Infectious causes: HIV, tuberculosis, Epstein-Barr virus, parvovirus B19.
  • Autoimmune diseases: systemic lupus erythematosus (SLE), rheumatoid arthritis.
  • Nutritional deficiencies: vitamin B12 or folate deficiency.
  • Drug-induced: chemotherapy, immunosuppressants, antibiotics (chloramphenicol).
  • Hypersplenism: liver cirrhosis, portal hypertension.

Pathophysiology

  • Reduced haematopoiesis due to bone marrow suppression or infiltration.
  • Peripheral destruction of blood cells in autoimmune conditions or hypersplenism.
  • Defective cell production due to nutritional deficiencies or toxic insults.

Risk Factors

  • Exposure to cytotoxic drugs or radiation.
  • Chronic infections (HIV, tuberculosis).
  • Autoimmune disorders.
  • Malignancies affecting the bone marrow.
  • Chronic liver disease with hypersplenism.

Signs and Symptoms

  • Anaemia: fatigue, pallor, dyspnoea.
  • Leukopenia: recurrent infections, fever.
  • Thrombocytopenia: easy bruising, petechiae, mucosal bleeding.
  • Splenomegaly in cases of hypersplenism.
  • Bone pain in haematological malignancies.

Investigations

  • Full blood count (FBC): confirms pancytopenia.
  • Peripheral blood smear: assesses cell morphology.
  • Bone marrow biopsy: essential for diagnosing marrow failure or infiltration.
  • Serum vitamin B12 and folate: to exclude nutritional deficiencies.
  • Viral serology: HIV, Epstein-Barr virus, parvovirus B19.
  • Liver function tests: assess hypersplenism in chronic liver disease.

Management

1. Supportive Treatment:

  • Blood transfusions for symptomatic anaemia.
  • Platelet transfusions for severe thrombocytopenia with bleeding.
  • Broad-spectrum antibiotics for neutropenic fever.

2. Specific Treatment:

  • Aplastic anaemia: immunosuppressive therapy (ATG, ciclosporin) or bone marrow transplant.
  • Haematological malignancies: chemotherapy, targeted therapies.
  • Vitamin deficiencies: vitamin B12 or folate supplementation.
  • Hypersplenism: splenectomy in selected cases.

3. Referral:

  • Haematology: all cases of unexplained pancytopenia for further evaluation.
  • Infectious diseases: if underlying chronic infection is suspected.
  • Oncology: if malignancy is a suspected cause.
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