Introduction: Dyslipidaemia and diabetes mellitus have a complex relationship. Uncontrolled diabetes can result in hypertriglyceridaemia through decreased adipose tissue and muscle lipoprotein lipase activity. Conversely, insulin resistance and diabetes can occur in association with primary familial hyperlipidaemia. Eruptive xanthomas can be a presenting feature of the severe hypertriglyceridaemia found in familial hyperlipidaemia.
Although there are reports of adults presenting with hypertriglyceridaemia and new-onset diabetes there are none that we have found in paediatric cases.
Case report: A 14-year-old girl presented to accident and emergency with a 2-week history of a widespread itchy and painful rash. On further questioning she also complained of polydypsia and polyuria. The rash was diagnosed as eruptive xanthomas and investigations revealed a severe hypertriglyceridaemia (triglycerides: 189 mmol/l normal <1.7 mmol/l, cholesterol 34.2 mmol/l desired <5 mmol/l), hyperglycaemia and high ketones.
Ophthalmological examination demonstrated lipaemia retinalis, and ultrasound scan revealed xanthogranulomatous infiltration of her kidneys. Autoantibody and diabetic antibody screens were negative and C-peptide was low. Lipid electrophoresis confirmed type 5 hyperlipidaemia phenotype. This girls diabetes was controlled with s.c. insulin injections, and the hyperlipidaemia with a combination of a very low fat diet (fat content <20 g/day) and a fibrate. Six weeks later her lipid profile was within normal limits and her blood sugar control is now excellent. DNA analysis provided no evidence of familial hyperlipidaemia and maternal lipid profile was also normal.
Conclusions: Secondary type 5 hyperlipidaemia can be caused by the decreased adipose tissue and muscle lipoprotein lipase activity found in uncontrolled diabetes. Eruptive xanthomas can be a presenting feature of this severe hypertriglyceridaemia.
This case highlights the relationship which can occur between diabetes mellitus and hyperlipidaemia, and how hyperlipidaemia can be part of the initial presentation of diabetes. We have found no other cases of children or young people presenting in this fashion.
12 - 14 Nov 2014
British Society for Paediatric Endocrinology and Diabetes