ESPE Abstracts (2014) 82 P-D-1-2-75

Lpl Gene Mutation and Polymorphism of Apoc2 and Apoc5 Genes in a Patient with Diabetes Mellitus Type 1

Julita Nocon-Bohusz, Beata Wikiera, Aleksander Basiak & Anna Noczynska

Medical University, Wroclaw, Poland

Background: The rise of TG in patients with ketoacidosis is connected with the impairment of lipoprotein lipase activity – the enzyme strictly dependent on insulin.

Objective and hypotheses: The authors present a case report of 2.5 years old boy in whom diabetes manifestation was connected with severe metabolic disorders: ketoacidosis and extreme hyperlipidaemia.

Method: The child without any significant medical history, admitted because of features of dehydration and ketoacidosis connected with a newly diagnosed diabetes mellitus type 1.

Results: The laboratory results were as follows: glucose 850 mg/dl, pH 7.27, Na 100.5 mmol/l, K 4.0 mmol/l, TG 13 496 mg/dl, and Ch 734 mg/dl. A milky serum caused the reliable results difficult to achieve. The child was referred to intensive care unit after i.v. fluid administration. Insulin therapy and parenteral nourishment caused normalization of glucose levels and gradual normalization of metabolic status. On admission to endocrine unit: body weight 11 kg, normal gas analysis, HbA1c 11.6%, Ch 337 mg/dl, TG 766 mg/dl, and HDL 24 mg/dl. On abdominal ultrasound examination: the liver enlargement and its echogenicity increase – the picture of steatosis. Genetic analysis confirmed heterozygous mutation in exon 6 LPL gene and polymorphism of APOC2 and APOC5 genes. The same mutation in LPL gene was found in the patient’s mother.

Conclusion: So escalated lipid disturbances in a young child with diabetes mellitus were not reported in medical literature so far. LPL deficiency or its lower activity, and deficit of apolipoproteine C2 (apoC2) essential to LPL activation constitute the main genetic reasons of a primary increase of triglycerides level in the reported patient.

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