Endocrine Abstracts

Section 1: Case history: A 37-year-old South Asian woman was referred to our diabetes clinic from the Diabetes Eye Screening Programme. Her retinal blood vessels appeared white, in contrast to the normal pink-red colour. The patient was diagnosed with diabetes secondary to chronic pancreatitis a year prior to this presentation, for which she was on metformin and long-acting insulin but had suboptimal control and multiple hospitalisations with chronic pancreatitis. She was previously genotypically diagnosed with type I hyperlipidaemia aged 18. She had no significant family history. Her marriage was non-consanguineous, and she had five children, none of whom struggled with lipid abnormalities. She was a lifelong non-smoker and did not consume alcohol.

Section 2: Investigations: Upon examination, the patient had multiple naevi on her skin currently being managed conservatively by dermatologists. The rest of her examination was unremarkable. Laboratory investigations showed hypertriglyceridemia of 57.7 mmol/l (ref: <.0 mmol/l) and total cholesterol of 12.5 mmol/l (ref:<5.0 mmol/l), markedly higher than previous results. Her diabetes control was suboptimal, with an HbA1c of 74 mmol/mol (8.9%). Following evaluation, the patient was diagnosed with grade III lipaemia retinalis, secondary to type I hyperlipidaemia.

Section 3: Results and treatment: The patient was initially started on various standalone and combination therapies with fibrates, cholestyramine, orlistat and statin over a year; however, these proved to be ineffective. Dietary prudence consisting fruits, vegetables, whole grains, legumes, nuts, fish, and low-fat dairy products rather than refined or processed foods, red meats, high concentrated sweets, eggs, and butter, strict glycaemic control, omega-3 fish oil, and the use of medium-chain triglyceride oil showed some improvements in her lipid profile. The latter resulted in fat-soluble vitamin deficiency which was subsequently treated with vitamins D and E supplementation. She was also later started on volanesorsen. This lowers her serum triglycerides to single figures with no further admission with pancreatitis.

Section 4: Conclusions and points for discussion: Although our patient initially presented with no visual symptoms, untreated lipaemia retinalis may lead to irreversible visual loss. There is no specific treatment available other than conventional lipid lowering agents. More recent treatment, that was also received by our patient, volanesorsen, has been shown to significantly reduce triglyceride levels. Other management options such as exchange transfusion and surgical intervention may also improve lipid profile in refractory cases. Three years after the inital presentation, retinal images showed a complete resolution of lipaemia retinalis and normalisation of the retina.