An asymptomatic 45-year-old man was referred to the emergency department by his general practitioner in the setting of severe hypertriglyceridaemia (HT) on routine pathology. Prior medical history was significant for three prior episodes of hypertriglyceridaemia-related acute pancreatitis, obstructive sleep apnoea and type 2 diabetes with minimal adherence to biphasic insulin, fenofibrate and atorvastatin (4-5 missed doses per week). The patient had no history of medications associated with HT or alcohol excess. On arrival, he was found to have non-fasting serum triglycerides 156mmol/L, HbA1c 12.5%, C-peptide 1.28µg/L, and a paired serum glucose 9.8mmol/L. Pseudohyponatraemia was present, evidenced by sodium 131mmol/L via indirect measurement and 138mmol/L on direct measurement. Lipase, liver function tests, morning cortisol and thyroid function tests were within normal limits.
Examination revealed multiple eruptive xanthomas on extensor surfaces of the extremities, buttocks and feet. Anterior segment examination was unremarkable. Posterior segment examination and colour fundus photography revealed grade three lipaemia retinalis with diffuse white retinal vessels and salmon coloured retina. Visual acuity was 6/6 (right) and 3/36 (left) on a background of amblyopia from childhood refractory error. There was no evidence of retinal ischaemia.
The patient was fasted and a variable rate insulin infusion commenced. His TG progressively declined to 70.1mmol/L on day 2 of admission and 25.5 mmol/L by day 6. The patient was re-established on atorvastatin, fenofibrate, high dose omega-3 in addition to regular biphasic insulin and oral antihyperglycaemic medications prior to discharge on day 7. Repeat serum TG on day 10 were 8.6mmol/L. Screening of immediate family members was completed. Although there was no known family history, a clinical genetics review and lipid electrophoresis is pending.
Evidence based guidance for management of severe HT is lacking. Pseudohyponatraemia is common. Lipaemia retinalis often doesn’t affect visual acuity unless associated with vascular occlusion or retinal ischaemia.