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22nd July 2024
Pancytopenia
Pancytopenia is a reduction in all peripheral blood cell lineages and usually diagnosed when the three main cell lines – haemoglobin, platelets and neutrophils – are below the normal ranges. Patients may present with symptoms associated with cytopenias (infections, fatigue, dyspnoea, bruising or bleeding) or the underlying disease process.
Blood tests including FBC, reticulocytes, urea and electrolytes (U&E), clotting screen and blood film should be sent, and the patient may subsequently undergo a bone marrow biopsy.
There are many different causes of pancytopenia, which can be broadly grouped into: bone marrow infiltration, bone marrow aplasia and blood cell destruction or sequestration.
| Congenital | Gaucher’s – lysosomal storage disorder with bone marrow infiltration and splenomegaly
Fanconi’s anaemia – aplastic anaemia, developmental delay, microcephaly, café-au-lait lesions and increased risk of AML (acute myeloid leukaemia) Wiskott-Aldrich syndrome Haemophagocytic lymphohistiocytosis (HLH) |
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| Bone marrow infiltration | Malignant | Leukaemia, myelodysplastic syndromes, multiple myeloma
Metastatic cancer |
| Non-malignant | Myelofibrosis
Infections (e.g. TB, fungal) |
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| Bone marrow failure | Immune destruction or suppression | Aplastic anaemia, paroxysmal nocturnal haemoglobinuria
Drugs (e.g. cytotoxic drugs, sulfonamides) Autoimmune (e.g. SLE, rheumatoid arthritis [RA], sarcoidosis) Infections (e.g. HIV [human immunodeficiency virus], EBV, hepatitis) |
| Destruction or sequestration | Consumption | Disseminated intravascular coagulation |
| Splenomegaly | Liver disease
Infections (e.g. EBV) Autoimmune (e.g. SLE, RA) Malignancy (e.g. lymphoma, leukaemia) Storage disorders (e.g. Gaucher’s disease) |
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