Cases reported "Hypertriglyceridemia"

Filter by keywords:



Filtering documents. Please wait...

11/64. Severe hypercholesterolemia in a double heterozygote for lipoprotein lipase deficiency (LPL(Arita)) and apolipoprotein epsilon4: a report of a family with LPL(Arita).

    Although heterozygous lipoprotein lipase (LPL) deficiency is not rare, only part of the phenotypes may have been reported in japan. Here we describe a Japanese family with LPL(Arita), the most common mutation linked to familial LPL deficiency in japan, and show for the first time a heterozygote for the mutation who had marked hypercholesterolemia due to increased low-density lipoprotein (LDL) cholesterol. The proband's mother, one of the heterozygotes for LPL(Arita) in the family, had both severe hypercholesterolemia (total cholesterol 306 mg/dl) with an especially increase in LDL-cholesterol and mild hypertriglyceridemia (180 mg/dl). She had normal LDL receptor activity and did not show clear evidence of possible causes of secondary hyperlipidemia. In addition to being heterozygous for LPL deficiency, she was also heterozygous for apo epsilon4. Because the epsilon4 allele is known to be associated with higher LDL-cholesterol, heterozygous apo epsilon4 may be one of causes of her LDL-cholesterol elevation. The other three heterozygotes for LPL(Arita) were moderate drinkers, and all of them had both remarkable hypertriglyceridemia and mild hypercholesterolemia due to increased very-low-density lipoproteins (VLDL). The results suggest that heterozygotes for LPL(Arita) can exhibit various phenotypes of hyperlipidemia, that is, hypertrigliceridemia and/or hypercholesterolemia due to not only increased VLDL but also increased LDL. The phenotypes appear to depend on some other genetic and environmental factors.
- - - - - - - - - -
ranking = 1
keywords = lipoprotein, deficiency
(Clic here for more details about this article)

12/64. Severe hypertriglyceridemia with plasma inhibitory factor(s) on lipoprotein lipase activity in a patient with a common Ser(447)-Ter LPL mutation.

    Severe hypertriglyceridemia is a major risk for acute pancreatitis. So far, several mutations on the lipoprotein lipase (LPL) gene causing type I hyperlipidemia have been identified. However, the common mutation Ser(447)-Ter has been recently proposed to have a lowering effect on serum triglyceride concentrations in the general population. In this study, we analyzed blood from a patient suffering from severe hypertriglyceridemia and pancreatitis with the mutation on the lipoprotein lipase gene, Ser(447)-Ter. The patient's plasma showed inhibitory effects on the LPL activities from normal subjects. The bottom fraction separated by ultracentrifugation revealed enhanced effects as an inhibitory factor. The inhibitory effect observed in the bottom fraction was dose-dependent, stable at treatment of 65 degrees C for 30 min, and decreased significantly after being dialyzed using membranes with a cut-off molecular weight of 3500 or 6000 Da. The inhibitory effect was significantly higher when the post-heparin plasma was used from the patient or a subject with the same LPL mutation as an LPL source, compared to that from normal subjects. These results suggest that the patient has inhibitory factors in his plasma. Such inhibitory factors might cause severe hypertriglyceridemia in a case with the common mutation, which has been proposed to show the lowing effect on serum triglyceride concentrations in the general population.
- - - - - - - - - -
ranking = 0.54405560071303
keywords = lipoprotein
(Clic here for more details about this article)

13/64. A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency.

    CASE REPORT: A case is presented of predisposing a patient's father with obligate heterozygous lipoprotein lipase (LPL) deficiency to mild hypertriglyceridemia in Japanese I-family members (n=8) with patient DI, who was a compound heterozygote for a novel missense mutation of G154V (GG(716)C-->GTC/Gly(154) Val) in exon 5 and a novel splice mutation (Int8/5'-dss/t( 2)c; a T-to-C transition in the invariant GT at position 2 of the 5' donor splice site (dss)) in intron 8 of the LPL gene. RESULTS: The patient's father and paternal grandmother were heterozygotes for the Int8/5'-dss/t( 2)c allele, while the patient's mother and maternal grandmother were heterozygotes for the G154V allele. These four heterozygous carriers with one defective LPL allele showed 45-57% of the mean LPL activity and mass in the post-heparin plasma (PHP) observed in normal individuals. Among the four heterozygous carriers, the patient's father, who was <40 years old, nonobese and hyperinsulinemia, manifested mild hypertriglyceridemia (type IV hyperlipoproteinemia). The remaining three healthy heterozygous carriers (two were >40 years old and the other was <40 years old) were all normolipidemic state. CONCLUSION: In this family, hyperinsulinemia as a marker of insulin resistance may be a strong determinant of hypertriglyceridemia in the carrier with heterozygous LPL deficiency.
- - - - - - - - - -
ranking = 0.54625394244969
keywords = lipoprotein, deficiency
(Clic here for more details about this article)

14/64. Intensive, long-term plasma exchange therapy for severe hypertriglyceridemia in acquired generalized lipoatrophy.

    We report dramatic improvement in clinical and laboratory parameters after intensive plasma exchange therapy in a 15-yr-old girl with acquired generalized lipoatrophy and refractory hypertriglyceridemia. One hundred and twenty-five procedures were performed over 720 d. Two or three plasma volumes were exchanged per procedure, using peripheral venous access and albumin as replacement solution. Regression of painful cutaneous xanthomata and reduction in massive hepatomegaly were noted within the first two procedures. Triglyceride levels started at 109 mmol/liter (9670 mg/dl) and decreased acutely by 60-85%/procedure. Lipid removal averaged 83 g/procedure and was highly correlated with preexchange lipid levels. Lipid levels rebounded to baseline values within 7 d after exchange and appeared to rebound more rapidly after larger exchanges. Maximum benefit was achieved with weekly 1.5- to 2.0-volume exchanges. No significant decrease in apolipoprotein CII levels was detected after plasma exchange regardless of the volume of exchange; however, other plasma factors regulating triglyceride synthesis or clearance may have been removed during the procedures. plasma exchange was well tolerated, without clinical, immunological, or hormonal deterioration. These data indicate that intensive plasma exchange therapy over a protracted time may produce sustained benefit in patients with severe, symptomatic hypertriglyceridemia refractory to standard medical therapy.
- - - - - - - - - -
ranking = 0.090675933452172
keywords = lipoprotein
(Clic here for more details about this article)

15/64. Successful pregnancy outcome in a patient with severe chylomicronemia due to compound heterozygosity for mutant lipoprotein lipase.

    OBJECTIVES: Familial chylomicronemia syndrome is characterized by massive accumulation of plasma chylomicrons, which typically results from an absolute deficiency of lipoprotein lipase (LPL). Chylomicronemia in pregnancy is a rare, but serious clinical problem and can be found in patients with underlying molecular defects in the LPL gene. We report the course and treatment of an 18 yr-old primigravida who had LPL deficiency and hypertriglyceridemia since birth. We also analyzed the molecular basis of her LPL deficiency. DESIGN AND methods: The patient's antenatal course was complicated by extreme elevations of plasma triglycerides. Her management included a very low fat diet, pharmacotherapy with gemfibrozil in the third trimester, and intermittent hospitalization with periods of fasting supplemented by IV glucose feeding. We used dna sequencing to determine whether mutations in LPL were present. RESULTS: At 38 weeks of gestation, labor was induced, and the patient delivered a healthy 2.77 kilogram male. Postnatal triglycerides fell to prenatal levels. dna sequencing showed that she was a compound heterozygote for mutant LPL: I > T194 and R > H243. CONCLUSIONS: This experience indicates that vigilance is required during pregnancy in patients with familial chylomicronemia due to mutant LPL. gemfibrozil was used in this patient without apparent adverse effects. Compound heterozygosity for LPL mutations is an important underlying mechanism for LPL deficiency.
- - - - - - - - - -
ranking = 0.45484522841864
keywords = lipoprotein, deficiency
(Clic here for more details about this article)

16/64. Chylomicronemia caused by lipoprotein lipase gene mutation related to a hyper-response of insulin secretion to glucose.

    A 39-year-old man with lipoprotein lipase (LPL) deficiency (height 177.7 cm, body weight 67 kg, and body mass index 21.2 kg/m2) showed severe hypertriglyceridemia (2,032 mg/dl). LPL activity and concentration were markedly low in postheparin plasma. LPL gene analysis revealed a homozygous mutation, Asp204 --> Glu in exon 5. fasting plasma glucose (81 mg/dl) and insulin (2.7 microU/ml) levels were normal. Plasma glucose pattern during oral glucose (75 g) tolerance test was normal, however 30 minutes after glucose-loading the insulin secretion unexpectedly increased to 89.4 microU/ml. These data suggested that chylomicronemia might be related to a hyper-response of insulin secretion to glucose without obesity.
- - - - - - - - - -
ranking = 0.45374605755031
keywords = lipoprotein, deficiency
(Clic here for more details about this article)

17/64. Human cholesterol 7alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype.

    bile acid synthesis plays a critical role in the maintenance of mammalian cholesterol homeostasis. The CYP7A1 gene encodes the enzyme cholesterol 7alpha-hydroxylase, which catalyzes the initial step in cholesterol catabolism and bile acid synthesis. We report here a new metabolic disorder presenting with hyperlipidemia caused by a homozygous deletion mutation in CYP7A1. The mutation leads to a frameshift (L413fsX414) that results in loss of the active site and enzyme function. High levels of LDL cholesterol were seen in three homozygous subjects. Analysis of a liver biopsy and stool from one of these subjects revealed double the normal hepatic cholesterol content, a markedly deficient rate of bile acid excretion, and evidence for upregulation of the alternative bile acid pathway. Two male subjects studied had hypertriglyceridemia and premature gallstone disease, and their LDL cholesterol levels were noticeably resistant to 3-hydroxy-3-methylglutaryl-coenzyme a reductase inhibitors. One subject also had premature coronary and peripheral vascular disease. Study of the kindred, which is of English and Celtic background, revealed that individuals heterozygous for the mutation are also hyperlipidemic, indicating that this is a codominant disorder.
- - - - - - - - - -
ranking = 0.0014655611577739
keywords = deficiency
(Clic here for more details about this article)

18/64. Severe hypertriglyceridaemia associated with human immunodeficiency virus and highly active antiretroviral therapy.

    We report two cases of severe hypertriglyceridaemia associated with human immunodeficiency virus infection and highly active antiretroviral therapy (HAART). The first patient, a 39-year-old man, developed moderate hypertriglyceridaemia (5.88 mmol/L) and hypercholesterolaemia (7.0 mmol/L) after 8 months of HAART. When his therapy was altered, triglyceride and cholesterol concentrations increased further to 15.9 and 10.9 mmol/L, respectively, after 6 weeks. The second patient, a 31-year-old man, presented with triglyceride and cholesterol concentrations of 16.2 and 5.7 mmol/L, respectively, following an 8-year history of HAART. Therapy was changed, but 1 month later the triglyceride concentration had increased to 39.4 mmol/L and the cholesterol concentration to 12.1 mmol/L. Both patients were managed by a change in HAART and the introduction of a fibric acid derivative. Although neither patient displayed any clinical symptoms associated with hypertriglyceridaemia, it is important to recognize such cases because of the associated risk of pancreatitis and coronary disease.
- - - - - - - - - -
ranking = 0.0018319514472174
keywords = deficiency
(Clic here for more details about this article)

19/64. Severe hypocholesterolemia with reduced serum lipoprotein(a) in a patient with visceral leishmaniasis.

    We report the case of a 36-yr-old man with visceral leishmaniasis who presented with marked hypocholesterolemia, mild hypertriglyceridemia, severely decreased serum levels of HDL-cholesterol, ldl-cholesterol, apolipoproteins AI and B, and increased serum level of apolipoprotein E. Moreover, serum Lp(a) level was markedly reduced on presentation, which is the first published report on Lp(a) levels in kala-azar. Possible mechanisms for the observed alterations of the serum lipid profile are discussed.
- - - - - - - - - -
ranking = 0.54405560071303
keywords = lipoprotein
(Clic here for more details about this article)

20/64. Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects.

    Recent recommendations in the National Cholesterol education Program Expert Panel on Detection, Evaluation and Treatment of High blood Cholesterol in Adults (ATPIII) are expected to increase the number of triglyceride (TG) determinations and consequently the risk of misinterpretation of "non-blanked" results with co-determination of free glycerol. Glycerol-kinase deficiency (GKD) is one cause of falsely elevated TG results. The natural history of isolated GKD with symptom-free cases and cases with e.g. severe episodes of hypoglycemia and/or ketoacidosis challenges the laboratories to identify cases of GKD and family members at risk. "Blanked" methods reporting both glycerol and TG concentration are therefore desirable. Molecular studies of the glycerol kinase (GK) and DAX1 genes were performed on four cases of "persistent hypertriglyceridemia" found in an Italian population and on two pediatric cases with high serum glycerol concentration. Two new missense mutations were found (C358Y, T961). Molecular modeling on GK from E. coli, indicate that these mutations are located in parts of the enzyme important for enzyme formation or activity. One splice-site mutation, (IVS9A-1G>A), was found in two brothers. Splice-junction analysis indicates that it destroys the splice site and results in a mixture of mRNA. Deletion of the GK and DAX1 genes was found in one child with symptoms of adrenal failure. A female with glycerolemia and glyceroluria had normal GK activity but possibly slightly decreased ability to oxidize glycerol.
- - - - - - - - - -
ranking = 0.00036639028944349
keywords = deficiency
(Clic here for more details about this article)
<- Previous || Next ->


Leave a message about 'Hypertriglyceridemia'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.