Key result
Diabetic lipaemia was associated with lower mean lipoprotein lipase concentrations compared to controls, reflecting a quantitative deficiency rather than LPL mutations.
Why the study?
Is diabetic lipaemia caused by loss of function mutations in the lipoprotein lipase gene (LPL)?
Case-Control (n=18)
Yes
Is diabetic lipaemia caused by loss of function mutations in the lipoprotein lipase gene (LPL)?
Diabetic lipaemia is predominantly associated with a quantitative deficiency in lipoprotein lipase rather than genetic mutations, suggesting these patients may have ketosis-prone Type 2 diabetes.
Answers are grounded in this paper and cite their sources.
Association suggests acquired LPL deficiency over mutations in diabetic lipaemia; hypothesis-generating for ketosis-prone diabetes subtypes.
AIMS: To determine if diabetic lipaemia is caused by loss of function mutations in the lipoprotein lipase gene, LPL. METHODS: We conducted a case-control study over 2 years in two tertiary care hospitals in South Australia. Six patients with a history of diabetic lipaemia and 12 control subjects, with previous diabetic ketoacidosis and peak triglyceride concentrations < 2.4 mmol/l were included. Participants were well at the time of study investigations. RESULTS: Only one patient with lipaemia had a loss of function mutation in LPL and no functional mutations in APOC2 or GPIHBP1 were identified. The mean lipoprotein lipase concentration was lower in patients with diabetic lipaemia than in control subjects (306 vs. 484 μg/l, P = 0.04). The mean fasting C-peptide concentration was higher in patients with diabetic lipaemia than in control subjects (771 vs. 50 pmol/l; P = 0.001). CONCLUSIONS: Lipoprotein lipase deficiency in patients with a history of diabetic lipaemia was predominantly quantitative, rather than secondary to mutations in LPL, APOC2 or GPIHBP1. The majority of patients with severe hypertriglyceridaemia in diabetic ketoacidosis may have ketosis-prone Type 2, rather than Type 1, diabetes.
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Radhakutty et al. (2014) conducted a case-control in Diabetic lipaemia (n=18). History of diabetic lipaemia vs. Previous diabetic ketoacidosis with peak triglycerides < 2.4 mmol/l was evaluated on Mean lipoprotein lipase concentration (μg/l) (p=0.04). Diabetic lipaemia was associated with lower mean lipoprotein lipase concentrations compared to controls, reflecting a quantitative deficiency rather than LPL mutations.
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