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How do I differentiate between aplastic anaemia and other causes of bone marrow failure in primary care?
Answer
In a primary care setting, differentiating aplastic anaemia (AA) from other causes of bone marrow failure primarily relies on clinical suspicion and initial blood tests, as definitive diagnosis requires specialist referral and bone marrow examination 1. Key clinical features include pancytopenia symptoms such as fatigue, infections, and bleeding tendencies without organomegaly or lymphadenopathy, which are more typical of malignancies like leukaemia (DeZern and Churpek, 2021). Initial blood tests should show pancytopenia with low reticulocyte count, indicating marrow hypoplasia rather than peripheral destruction or sequestration 1. Peripheral blood smear typically reveals normocytic, normochromic anaemia without abnormal cells, helping to exclude myelodysplastic syndromes or leukaemia (Marsh et al., 2009). Other causes of bone marrow failure such as myelophthisis, infiltrative diseases, or nutritional deficiencies often present with additional clinical or laboratory clues, including organomegaly, abnormal cell morphology, or macrocytosis (Barone et al., 2015). Referral for urgent haematology assessment is essential for bone marrow biopsy to confirm hypocellularity without fibrosis or malignant infiltration, which is diagnostic of AA 1. Thus, in primary care, the differentiation hinges on recognising unexplained pancytopenia with hypocellular marrow features suggested by blood tests and clinical context, followed by prompt specialist referral (DeZern and Churpek, 2021; Marsh et al., 2009).
Key References
- NG12 - Suspected cancer: recognition and referral
- CG146 - Osteoporosis: assessing the risk of fragility fracture
- (Marsh et al., 2009): Guidelines for the diagnosis and management of aplastic anaemia.
- (Barone et al., 2015): Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP).
- (DeZern and Churpek, 2021): Approach to the diagnosis of aplastic anemia.
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