High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform.

Ma, Yuanhong; Ooi, Teik Chye; Liu, Ming-Sun; Zhang, Hanfang; McPherson, Richard A.; Edwards, Alun-L; Forsythe, Ian J.; Fröhlich, Jiří; Brunzell, John D.; Hayden, Michael R.

doi:10.1016/s0022-2275(20)40102-6

Cited by 105 publications

(24 citation statements)

References 35 publications

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“…Ma et al reported 4 patients with severe hyperlipoproteinemia during pregnancy, 3 of them with PLPLD and the fourth with ApoE3/3 genotype; also, the same authors previously had reported another case with partial LPLD with 12% of the normal activity. 28 The range of triglyceride levels in these patients was between 2314 and 14 596 mg/dL during pregnancy and 80 and 623 mg/dL before pregnancy. The range of TC in these patients was 132 to 320 mg/dL in nonpregnant state and 251 to 970 mg/dL in the third trimester of pregnancy.…”

Section: Extreme Hyperlipoproteinemia Limited To Gestational Periodmentioning

confidence: 76%

“…The range of TC in these patients was 132 to 320 mg/dL in nonpregnant state and 251 to 970 mg/dL in the third trimester of pregnancy. 28 In our experience, we had confronted with a patient belonging to this group; she was incidentally diagnosed at 30th week of gestation because of turbid cloudy supernatant appearance of the blood samples. 29 Severe hyperlipidemia was demonstrated on further investigation with levels of triglyceride 1411 mg/dL.…”

Section: Extreme Hyperlipoproteinemia Limited To Gestational Periodmentioning

confidence: 99%

“…34 According to the reported cases in the English literature, management of patients in this group with extremely low fat diet is usually adequate. [28][29][30]34 However, an individualized approach may be required regarding the clinical condition and lipid profile of the patients. With progressive increase of the triglycerides (to over 2000 to 3000) and cholesterol in patients that are unresponsive to dietary management, acute pancreatitis and other hyperlipoproteinemiaassociated complications may develop.…”

Section: Extreme Hyperlipoproteinemia Limited To Gestational Periodmentioning

confidence: 99%

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Pregnancy-induced Hyperlipoproteinemia: Review of the Literature

Başaran¹

2009

Reprod. Sci.

123

105

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It is well known that with the effect of hormonal changes during pregnancy, plasma lipid levels increase. Expected elevations for triglyceride and cholesterol levels during a normal gestational period usually do not exceed 332 mg/dL and 337 mg/dL, respectively (corresponding 95th percentile values). However, elevations over the 95th percentile values can be observed during pregnancy, and patients with levels over these expected adaptation levels can be divided into 2 groups: (1) supraphysiologic hyperlipoproteinemia during pregnancy and (2) extreme hyperlipoproteinemia limited to gestational period (triglyceride level >1000 mg/dL). Regarding the first group, some of these patients may develop hyperlipoproteinemia in their future life. What percentage of these women will translate into hyperlipoproteinemia later in life and how efficiently these women can be screened during pregnancy is an enigma. The underlying disorders in the second group of patients at least include dysbetalipoproteinemia, partial lipoprotein lipase deficiency, and apoprotein E3/3 genotype. Pregnancy had been reported to induce severe hyperlipoproteinemia that is limited to gestational period in these disorders. Dysbetalipoproteinemia, partial lipoprotein lipase deficiency, and apoprotein E3/3 genotype probably bring risks and implications to the future life of the carrying individuals although the true extent of the risks is yet to be defined. When disorders unique to gestational period such as gestational diabetes are considered, pregnancy may be accepted as an opportunity to identify women under risk of cardiovascular morbidity and mortality.

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Section: Extreme Hyperlipoproteinemia Limited To Gestational Periodmentioning

confidence: 76%

Section: Extreme Hyperlipoproteinemia Limited To Gestational Periodmentioning

confidence: 99%

Section: Extreme Hyperlipoproteinemia Limited To Gestational Periodmentioning

confidence: 99%

See 1 more Smart Citation

Pregnancy-induced Hyperlipoproteinemia: Review of the Literature

Başaran¹

2009

Reprod. Sci.

123

105

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“…There are no cross-sectional population studies of the effects of any of the LPL polymorphisms and apoE alleles during pregnancy. However, a small number of case studies have reported dramatically altered lipid levels in individuals with variations in both genes during pregnancy (21). In the majority of these cases, the LPL mutation results in decreased LPL activity, and the apoE genotype is that of E2 heterozygote or homozygote, resulting in increased TG.…”

Section: Apolipoprotein E and Plasma Lipidsmentioning

confidence: 99%

Lipoprotein lipase and apoE polymorphisms: relationship to hypertriglyceridemia during pregnancy

McGladdery

Fröhlich

2001

Journal of Lipid Research

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Pregnancy is associated with increases in plasma total cholesterol (TC) and triglycerides (TG). Individuals with decreased LPL activity have a mild form of hypertriglyceridemia. Variations in the apolipoprotein E (apoE) gene have been associated with increases in plasma TG in addition to differences in plasma TC, LDL cholesterol (LDL-C), and HDL cholesterol (HDL-C). Because of the overproduction of TG-rich VLDL, normal pregnancy challenges the lipolytic capacity of LPL and the clearance of remnants particles. During pregnancy, LPL and apoE polymorphisms may contribute to hypertriglyceridimia. This study investigated the impact of three LPL polymorphisms and the apoE genotypes on lipid levels during pregnancy. Fasting plasma lipids were measured and analyses of the LPL and apoE polymorphisms were performed in 250 women in the third trimester of pregnancy. S447X carriers had lower TG ( P ‫؍‬ 0.003), and N291S carriers had lower HDL-C ( P Ͻ 0.02) and higher fractional esterification rate of HDL (FER HDL ) ( P ‫؍‬ 0.007), a measure of HDL particle size, than the noncarriers. The E2 allele was associated with lower TC, LDL-C, and FER HDL ( P Ͻ 0.05) compared to the E3/E3 genotype. These findings support that LPL and apoE polymorphisms play an important role in lipid metabolism in pregnancy. The relationship of these polymorphisms to risk of coronary heart disease in women requires further study. -McGladdery, S. H., and J. J. Frohlich. Lipoprotein lipase and apoE polymorphisms: relationship to hypertriglyceridemia during pregnancy.

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“…16 This increase is well tolerated by most women with normal baseline TG levels but may render those with genetic defects in TG metabolism prone to severe HTG and consequently HTG-induced AP (HTG-AP). In this regard, numerous studies have reported the identification of rare pathogenic variants in the lipoprotein lipase (LPL; OMIM# 609708), [17][18][19][20][21][22][23][24][25][26] glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1 (GPIHBP1; OMIM# 612757) and apolipoprotein C2 (APOC2; OMIM# 608083) genes 24,26 in patients experiencing HTG-AP during pregnancy (HTG-APIP). LPL, GPIHBP1 and APOC2, together with APOA5 (apolipoprotein A5; OMIM# 606368) and LMF1 (lipase maturation factor 1; OMIM# 611761), constitute the five primary TG-related genes.…”

Section: Introductionmentioning

confidence: 99%