FAMILIAL HYPERTRIGLYCERIDEMIA MANIFESTING RECURRENT PANCREATITIS, ERUPTIVE XANTHOMAS, LIPEMIA RETINALIS IN A YOUNG FEMALE WITH TYPE 1 DIABETES MELLITUS AND PRIMARY OVARIAN FAILURE

Abstract

INTRODUCTION/BACKGROUND
Severe hypertriglyceridemia is one of the etiologies of pancreatitis and is associated with diabetes mellitus.

CASE
We present a case of a 22-year-old female with DM diagnosed at 17 years old with presentation of osmotic symptoms. On examination, she was normotensive with a BMI of 23 kg/m2 , no features of Cushing syndrome but with sexual immaturity (Tanner stage 1). Baseline laboratory showed HBAIC of 10%, elevated AST 132 U/L, ALT 138 U/L, triglyceride (TG) 16.62 mmol/L, LDL 0.3 mmol/L, HDL 0.8 mmol/L, macroalbuminuria, normal renal profile, thyroid function test and cortisol level. Serum FSH of 24.2 IU/L, LH of 8.02 IU/L and estrogen levels of 71.1 pmol/L confirmed primary ovarian failure and karyotyping excluded Turner's syndrome. Ultrasound of the abdomen showed a fatty liver, a small uterus and ovaries. Initial treatment included an oral hyperglycaemic agent, basal insulin, fenofibrate and statin. On subsequent follow-up, diabetes control remains poor, with HbA1c persistently above 10%, requiring intensification with basal-bolus insulin. Fundoscopy showed bilateral lipemia retinalis but no retinopathy. She developed acute pancreatitis two years after diagnosis of DM, and imaging confirmed pancreatitis without calculi. Lipid levels were not available due to lipemic samples. She later noted xanthomas over her extremities and presented again with severe pancreatitis and uncontrolled diabetes. Markedly elevated triglyceride level at 59.73 mmol/L reduced to 5.49 mmol/L with continuous insulin infusion. Omega-3 oil tablets were added, and an outpatient review showed improved HbA1c levels from 12.3% to 10.4% and triglyceride of 5.36 mmol/L. DM autoantibodies confirmed autoimmune diabetes.

CONCLUSION
This patient illustrates a unique case of a likely familial hypertriglyceridemia co-existent with poorly controlled type 1 diabetes mellitus that presented with recurrent pancreatitis, eruptive xanthomas and lipemia retinalis, which can be controlled with appropriate treatment.