A case of neonatal-onset type I hyperlipoproteinemia with bloody ascites / 中国当代儿科杂志

This report presents a case of a male infant, aged 32 days, who was admitted to the hospital due to 2 days of bloody stools and 1 day of fever. Upon admission, venous blood samples were collected, which appeared pink. Blood biochemistry tests revealed elevated levels of triglycerides and total cholesterol. The familial whole genome sequencing revealed a compound heterozygous variation in the LPL gene, with one variation inherited from the father and the other from the mother. The patient was diagnosed with lipoprotein lipase deficiency-related hyperlipoproteinemia. Acute symptoms including bloody stools, fever, and bloody ascites led to the consideration of acute pancreatitis, and the treatment involved fasting, plasma exchange, and whole blood exchange. Following the definitive diagnosis based on the genetic results, the patient was given a low-fat diet and received treatment with fat-soluble vitamins and trace elements, as well as adjustments to the feeding plan. After a 4-week hospitalization, the patient's condition improved and he was discharged. Follow-up showed a decrease in triglycerides and total cholesterol levels. At the age of 1 year, the patient's growth and psychomotor development were normal. This article emphasizes the multidisciplinary diagnosis and treatment of familial hyperlipoproteinemia presenting with symptoms suggestive of acute pancreatitis, including bloody ascites, in the neonatal period.

Association of Polymorphism of Lipoprotein Lipase Gene with Type 2 Diabetes and the Lipids Spectrum in Uygurs / 中国慢性病预防与控制

Objective To study the association of LPL gene polymorphism with type 2 diabetes and the lipids spectrum in Uygurs. Methods Based on the case-siblings control design, the lipid spectrum of Uygur were tested by Automatic biochemical analyzer and the polymorphism of LPL gene were analyzed by RLFP with Hind Ⅲ in 62 T2DM patients, 62 IGT patients and 124 normal controls of Uygurs. Results The genotype distribution and allele frequencies of LPL gene in three groups were not statistically significant. The average of TG in H+H+group, H-H-group and H+H-group were 2.26, 1.73 and 1.80 mmol/L; Compared with the three genotypes and lipid indicators, TG content of Mutant H +H + group were higher than that in other groups. Multi-factor Logistic regression analysis showed T2DM was closely related to TG (P=0.034)and waist circumference (P=0.001). Conclusion The relation between LPL gene polymorphism by Hind Ⅲ and the risk for T2DM in Xinjiang Uygur population are no statistical relevance, LPL gene mutations may be one of the factors causing elevated levels of plasma TG.

Association of Lipoprotein Lipase Gene Polymorphisms with Plasma Lipids in Ischemic Stroke Patients

BACKGROUND: Lipoprotein lipase (LPL) is a key enzyme in the processing of triglycerides and plays a central role in lipid metabolism. It has been reported that the polymorphisms in the LPL gene were associated with plasma concentra-tions of HDL cholesterol (HDL) and triglycerides (TG) in coronary heart disease. We evaluated the correlation between the LPL gene polymorphisms and blood lipids in ischemic stroke patients. METHODS: Ninety-six ischemic stroke patients and 88 controls were included in the study. We evaluated polymorphic sites in the LPL gene using the HindIII for the intron 8 and PvuII for the intron 6 to the polymerase chain reaction products in each group. Allele frequencies, polymorphism information contents (PIC), heterozygosity indices of HindIII and PvuII polymorphisms were calculated in each group. Correlations of total cholesterol, HDL cholesterol, TG, and LDL cholesterol levels in the serum with the HindIII and PvuII polymorphisms of the LPL gene were analyzed in each group. RESULTS: The H+ frequencies, 0.786 and 0.752, in the stroke and control groups respectively. The P+ frequencies were 0.623 and 0.710 in stroke and control groups respectively. No significant difference was observed in triglyceride, total cholesterol, HDL, and LDL. CONCLUSIONS: These findings suggest that the HindIII and PvuII polymorphisms in LPL gene may not be associated with the occurrence of ischemic stroke.

Polymorphisms at the Lipoprotein Lipase Gene: Possible Associations with Coronary Artery Disease and Blood Lipid Levels in Koreans / 대한임상병리학회지

BACKGROUND: Lipoprotein lipase (LPL) gene polymorphisms have been found associated with coronary artery disease (CAD) and lipid levels, but their impact is less clearly established. The analysis of associations of LPL gene polymorphisms with CAD and lipid levels in Koreans was investigated. METHODS: Analysis of PvuII (intron 6), HindIII (intron 8), and Ser447-Ter (exon 9) polymorphisms of LPL gene were performed using restriction enzyme digestion of amplified DNA products and lipid levels were analyzed in healthy control subjects (n=228) and patients with CAD (n=166). RESULTS: PvuII, HindIII, and Ser447-Ter sites were in strong linkage disequilibrium. No statistical differences in the genotypic frequencies of PvuII, HindIII, and Ser447-Ter polymorphisms were observed between control and CAD groups. P2P2 genotype had higher triglyceride level in CAD group and lower HDL-cholesterol level in control group than the other genotypes (P1P1, P1P2). H2H2 genotype had higher triglyceride level in CAD group and lower HDL-cholesterol level in control group than the other genotypes (H1H1, H1H2). CONCLUSIONS: Genotypes of LPL PvuII, HindIII, and Ser447-Ter polymorphisms were not associated with CAD. Individuals with P2P2 and H2H2 genotypes, however, had higher triglyceride and lower HDL-cholesterol levels that is known to be the most commmon dyslipidaemia in CAD patients.

ANALYSIS OF THE RELATIONSHIP BETWEEN LIPOPROTEIN LIPASE GENE POLYMORPHISM AND BLOOD FAT TRAITS / 营养学报

Objective To investigate the effect of diet and gene on blood-fat trait of the individual.Method One hundred and twenty mice were fed with high fat emulsion for 4 w,then the genotypes of LPL were analyzed by PCR-SSCP to investigate their effect on blood-fat traits and some organ performance of mice.Result After fed with high fat emulsion for 4 w,98 mice suffered from hyperlipidemia,while 22 mice did not.And a G/A mutation was found in 220 targeted fragments we amplified at 14355 site,and association analysis showed that the mice with BB genotype had higher TC、TG、LDL、H/W、L/W level than those of the mice with AA genotype(P