Endocrine Abstracts

Introduction: Abnormalities in glucose tolerance and diabetes have been described in various types of bone marrow failure including Fanconi’s and Diamond-Blackfan anaemia. It is also recognised that transmission of type 1 diabetes can occur following bone marrow transplantation (BMT).

Case report: We report a 9-year-old girl who presented with a three week history of lethargy and petechial spots. She was pancytopenic and subsequent investigations diagnosed a severe aplastic anaemia, Fanconi screen negative. Treatment with transfusions, alongside prophylactic antibiotic and antifungal agents, was commenced. No steroid treatment was instituted. Blood glucose level on this initial presentation was 16 mmol/l, with a clear urine dip. There was no history of polyuria, polydipsia or weight loss and no family history of diabetes. This result was attributed to a stress response and not further investigated. Whilst awaiting BMT she re-presented 3 months later with mouth ulcers. Blood glucose level at this time was 25.3 mmol/l. There was heavy glycosuria, no ketonuria and no acidosis on blood gas analysis. Diabetes screening bloods were taken and insulin was commenced on a multiple daily injection regime. Results showed: HbA1c 9.3% (78 mmol/mol), Insulin 34.9 mIU/l (taken after 24 h on insulin therapy due to initial sample error), C-peptide 1245 pmol/l. Anti-GAD, islet cell and IA2 antibodies negative. Insulin requirements reached 0.7 μ/kg per day. Due to severe sepsis and suspected invasive pulmonary aspergillosis, which also made anorexia a predominant feature, adjustments were needed frequently to the insulin regimen.

Conclusion: We believe this is the first reported case of diabetes in aplastic anaemia prior to BMT. The case highlights the importance of pursuing raised blood glucose levels in any individual regardless of their diagnosis and clinical status and also the challenges of managing such an insulin regime during severe sepsis.