ESPE Abstracts (2019) 92 P1-353

Evaluation of Primary Hypertriglyceridemia Patients: Ethiology, Phenotype, Treatment

Emel Hatun Aytaç Kaplan1, Burcu Kumru2, Hatice Mutlu Albayrak3, Mehmet Keskin1, Murat Karaoğlan1


1gaziantep univercity, pediatric endocrinology, gaziantep, Turkey. 2Division of Nutrition and Diet, Gaziantep Cengiz Gökçek Maternity and Children's Hospital, gaziantep, Turkey. 3Pediatric genetics, Gaziantep Cengiz Gökçek Maternity and Children's Hospital, gaziantep, Turkey


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.

AgeGenderStarting age of treatmentBlood Lipids (mg/dl)
TC/HDL/LDL/TG
PancreatitisGenetics
4yM36 day old543/ 385/ 203/ 16818+c.-3G>Ahomozygous ApoA5 polimorfism
1,5 yF28 day old1070/ 257/ 3/ 17265-LPL gene, homozygous, new
1,5yF44 day old421/ 48/ 147/ 1977-LPL gene,heterozygote, frame shift mutation, new
3yF42 day old916/ 156/ 573/ 986-LPL gene, homozygous, new
2,5yF27 day old367/ 102/ 2/35000-LPL gene, homozygous, new
16yF14 years old254/ 47/ 143/ 778-Beinganalyzed
13yM12 years old251/ 59/ 15/ 2550-LPL gene, homozygous, new
13yM13 years old251/ 59/ 15/2100+Beinganalayzed
7mM10 days old886/- /- / 13400-Beinganalayzed
6yF4 years old374/ 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

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