Introduction: Plasma triglyceride (TG) is formed by an exogenous pathway taken from food and by an endogenous pathway produced from the liver. Primer hypertriglyceridemia occurs by genetic reasons. Higher TG levels occurs in lipoprotein lipase (LPL), ApoC2, ApoA5 gene defects. Secondary hypertriglyceridemia is caused by obesity, insulin resistance, alcohol and some drugs. In that study, we evaluated 10 patients with primer hypertriglyceridemia regards to clinical and genetics.
Method: Evaluated of sex, age, age of diagnosis and lipid levels of diagnosis in this study. Genetic studies were performed. In the follow-up of patients with pancreatitis attack and treatment compliance of patients with pancreatitis attack were examined. The patients were also evaluated for cardiac, ophthalmic examination, thyroid function tests, liver functions and no complications were observed. In diet treatment was arranged restricted from total fat (15% fat of total calorie intake), restricted from long chain fatty acid and rich from medium chain fattyacid. Fat-soluble vitamins and essential fatty acids supplements are provided.
Findings: Age, gender, age at diagnosis, baseline lipid levels, pancreatitis status and genetic results are presented in the table (Table). Our treatment target TG level was determined as 1000 mg/dl and below. Early diagnosed and treatmented patients were protected from pancreatitis attack. Two patients who have treatment adaptation problem had pancreatitis attack. Liver function tests, thyroid function tests and ECO cardiographies were within normal limits. Lipemia retinalis was detected in two patients.
|Age||Gender||Starting age of treatment||Blood Lipids (mg/dl)|
|4y||M||36 day old||543/ 385/ 203/ 16818||+||c.-3G>Ahomozygous ApoA5 polimorfism|
|1,5 y||F||28 day old||1070/ 257/ 3/ 17265||-||LPL gene, homozygous, new|
|1,5y||F||44 day old||421/ 48/ 147/ 1977||-||LPL gene,heterozygote, frame shift mutation, new|
|3y||F||42 day old||916/ 156/ 573/ 986||-||LPL gene, homozygous, new|
|2,5y||F||27 day old||367/ 102/ 2/35000||-||LPL gene, homozygous, new|
|16y||F||14 years old||254/ 47/ 143/ 778||-||Beinganalyzed|
|13y||M||12 years old||251/ 59/ 15/ 2550||-||LPL gene, homozygous, new|
|13y||M||13 years old||251/ 59/ 15/2100||+||Beinganalayzed|
|7m||M||10 days old||886/- /- / 13400||-||Beinganalayzed|
|6y||F||4 years old||374/ 74/ 8/ 3941||-||LPL gene, homozygous, new|
Results: With this study, we wanted to show that genetic diversity in patients, importance of diet in prognosis, and patients can be protected from possible complications with appropriate treatment
19 - 21 Sep 2019
European Society for Paediatric Endocrinology