Case 124 – Summary

Many thanks for all of your input this week. We covered the case of a 68 year old lady presenting with macrocytic anaemia and thrombocytosis. Key points in initial investigation:

Exclude common causes – iron deficiency, B12/folate deficiency, myeloma screen, reactive causes, medications, myeloproliferative disorder (JAK2, CAL-R, MPL, BCR-ABL)

 

Her film showed evidence of dysplasia and so we organised a BM aspirate which confirmed dysplasia in two cell lineages. Cytogenetics confirmed our diagnosis of MDS with isolated del(5q)

Key recommendations regarding MDS del(5q)

Supportive care as per all patients with MDS:

Blood product support – although need to note that prognosis tends to be better (median survival at least 6 years) and so consider alternative strategies or iron chelation if indicated

Judicious treatment of infection

Psychological support

 

First-line to consider a trial of erythrocyte stimulating agent (ESA) e.g. EPO. Trial for 8 weeks, and then increase dose if no response for a further 8 weeks. Trial should last no longer than 16 weeks.

 

Patients who are transfusion-dependent or unsuitable/non-responders to ESA can be considered for lenalidomide – usually 10mg OD for 21 days in a 28 day cycle. Consider thromboprophylaxis on an individual basis

 

Further information is accessible on the BSH guideline:

 

https://b-s-h.org.uk/guidelines/guidelines/diagnosis-and-management-of-adult-myelodysplastic-syndromes/

 

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