Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study

Abstract

The lipoprotein lipase coding gene sequence was analysed on a 10-year-old girl with new-onset Type 1 diabetes mellitus (DM), ketoacidosis and severe hypertriglyceridaemia (TG > 112.9 mmol/l), revealing that the patient was a compound heterozygote for two mutations, D9N in exon 2 and S447X in exon 9. Although these two mutations usually do not considerably impair lipolytic enzyme activity, the combination of both in this patient may play a role in the development of severe hypertriglyceridaemia.

Recent insights into fatty liver, metabolic dyslipidaemia and their links to insulin resistance

“…This accords with the long-held idea that elevated plasma NEFAs in obese insulin-resistant individuals play a major role in the metabolic triad of NAFLD/insulin resistance/metabolic dyslipidaemia [15]. Although this is almost certainly the case in patients with poorly controlled diabetes in whom systemic insulin deficiency dominates the physiological picture [16], the situation is more complex in nondiabetic individuals. A technical limitation in studies of NEFA levels is the huge excess of plasma triglyceride (present in millimolar concentrations) over NEFA (typically present in micromolar concentrations), meaning that even minor ex-vivo hydrolysis with suboptimal sample handling can lead to significant overestimation of NEFA levels.…”

Severe Hypertriglyceridemia in Diabetic Ketoacidosis Accompanied by Acute Pancreatitis: Case Report

“…Although morbidity is <1%, clinicians should be aware that devastating consequences such as acute pancreatitis or lipidemia retinalis are possible (8). In extreme cases, co-existence of genetic mutations in lipoprotein lipase should be suspected (10). …”

ApoE isoform leading to hypertriglyceridemia in new onset type 1 diabetes

“…This mutation is well‐documented, and in its homozygous form, often leads to chylomicronemia with severe (>16.9 mmol/L) hypertriglyceridemia, low HDL, and an increase risk of ischemic heart disease in both insulin deficient and sufficient states 10. Mutational analysis of the few reported cases of persistent and severe hypertriglyceridemia in DKA has mainly focused on LPL mutations 1, 11, 12. Severe, but not persistent, elevations in TG levels are rarely described in the literature and may be from abnormalities in lipoprotein cofactors, that is apolipoproteins.…”