ESPE Abstracts

Presentation: A 15-year-old girl presented to Paediatric A&E with lethargy, polyuria, polydipsia and blurred vision. Initial blood gas showed a pH of 7.28, blood glucose unrecordable and ketones of 4mmol/L. The patient was started on IV fluids and insulin, according to the diabetic ketoacidosis (DKA) protocol, and a new diagnosis of type 1 diabetes mellitus was made.

Investigations: Finger-prick capillary sampling provided serum blood samples that were ‘milky’ in appearance. Initial results showed Hba1c 174mmol/mol, triglycerides 251.2mmol/L, and cholesterol 41mmol/L. Other initial blood tests were rejected by the laboratory due to being too lipaemic for analysis. A diagnosis of hypertriglyceridaemia secondary to DKA was made. Ophthalmology assessment revealed bilateral lipaemia retinalis, plus bilateral complicated rosette-shaped posterior subcapsular cataracts. There was no family history of hyperlipidaemia, and no other peripheral stigmata of hyperlipidaemia i.e. xanthelasma.

Management: Following advice from the paediatric metabolic team, the hypertriglyceridaemia was managed conservatively and the patient was commenced on a low-fat diet, in addition to regular subcutaneous insulin from the diabetes team. The hypertriglyceridaemia subsided completely and subsequent triglyceride level after 4 weeks was 1.33mmol/L. The lipaemia retinalis and bilateral cataracts also resolved with normalisation of triglyceride levels, following treatment of DKA and the dietary measures.

Hypertriglyceridaemia: The normal value for triglycerides in the paediatric population is <2.3mmol/L. In response to insulin deficiency, adipose tissues release increased free fatty acids (FFA) through lipolysis. FFA are taken up by the liver, leading to increased production of very-low-density-lipoprotein, which subsequently causes hypertriglyceridaemia. Hypertriglyceridaemia can be diagnosed when triglycerides >10mmol/L. Patients in DKA are at an increased risk of hypertriglyceridaemia, and patients with severe hypertriglyceridaemia have been documented to suffer significant complications, including acute pancreatitis and cerebral oedema. However, there are very few published cases of lipaemia retinalis in a paediatric patient with hypertriglyceridaemia secondary to DKA. Lipemia retinalis is an ocular finding associated with elevated plasma triglycerides. Characterised by an abnormal appearance of the retinal veins and arteries, vessels appear creamy-white in colour. Causes include familial hypertriglyceridaemia, drugs, renal disease, liver disease and uncontrolled diabetes. Patients with lipaemia retinalis are at an increased risk of retinal artery and vein occlusion, and retinal ischaemia. Retinal changes secondary to lipaemia should improve once triglyceride levels are controlled. Reversible diabetic cataracts are rare, and the pathophysiology is not fully understood. It has been hypothesised to be linked to changes in lens hydration, secondary to fluctuations in blood and aqueous glucose levels.