A woman aged 25 years attends her GP complaining of night sweats and loss of weight. She is found on examination to have an enlarged spleen but no other abnormality.
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(a) What initial tests do you request?
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Correct answer:
(a) Full blood count
(b) C-reactive protein
(c) Liver and renal function tests
(d) Ultrasound of the abdomen.
There are many causes of an enlarged spleen including inflammatory disease such as malaria, liver disease with portal hypertension, lymphomas and myeloproliferative diseases. The initial tests listed will help to exclude or diagnose many of these.
The tests show a mild anaemia of 102 g/L, a raised white cell count of 95 × 109/L with the differential showing predominant neutrophils and myelocytes. The platelet count is 539 × 109/L.
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(b) What is the most likely diagnosis and how would you confirm this?
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Correct answer:
The blood picture suggests chronic myeloid leukaemia (CML). Bone marrow examination with chromosome analysis is needed to determine whether the 9;21 transolocation and Philadelphia chromosome is present. In this case, the 9;21 translocation is present.
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(c) What is the initial treatment and how is this monitored?
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Correct answer:
CML is treated with the tyrosine kinase inhibitor, imatinib. The treatment is monitored clinically by symptoms and spleen size and by blood count and chromosome analysis of peripheral blood leucocytes. If the chromosome test becomes negative for the 9;21 translocation, the disease is monitored by testing for the BCR-ABL mRNA level in the peripheral blood leucocytes.
Initially, allopurinol is given because hyperuricaemia is often present in untreated CML.
