Combined Hyperlipidemia Research Articles

Prevalence of dyslipidemia among employees of a pulp and paper company.

The forestry sector employs a large number of workers worldwide. To establish the prevalence of dyslipidemia among forestry workers in a pulp and paper company. Cross-sectional and descriptive study with quantitative approach conducted with a sample of 155 forestry machine operations who underwent periodic health examinations in 2013. 45.1% of the participants exhibited sedentary behavior, 18.7% obesity, 52.2% overweight and 36.7% waist circumference within the high-risk range. About 46.5% exhibited HDL <40 mg/dL; 6.5% LDL >160 mg/dL (hypercholesterolemia alone); 38.7% triglycerides >150 mg/dL (hypertriglyceridemia alone); and 3.2% mixed hyperlipidemia. Based on the results we suggest a strategic action plan to revert the status of dyslipidemia and continuously improve the quality of life of this population of workers. Health promotion strategies are needed to improve the quality of life of workers, including orientation on healthy lifestyles and incentives to balanced nutrition and physical activity.

Characterization of Dyslipidemia and Assessment of Atherogenic Risk amongst Cameroonian Living in Yaounde: A Cross Sectional Study

Background: This study was conducted to evaluate the lipid profile in nutritional categories, to characterize dyslipidemia and assess cardiovascular risk, to describe association between anthropometric markers, incidence of dyslipidemia and cardiovascular risk in Cameroonian adults. Methods: A cross-sectional survey was conducted in Yaounde from April 2014-June 2015. It included 1986 individuals, aged 20 - 65 years, both males (30.7%) and females (69.3%). Blood pressure, anthropometric measurement including weight, height, body fat, waist and hip circumference were performed. BMI was used to define nutritional status. Blood analysis included total cholesterol, HDL-cholesterol and triglycerides, insulin. Dyslipidemia was defined as hypercholesterolemia, hypertriglyceridemia, low HDL-cholesterolemia and combined dyslipidemia. Atherogenic indexes were calculated for assessment of the cardiovascular risk. Results: Out of the 1986 participants, 544 (27.4%), 616 (31%), and 826 (41.6%) were normal weight, overweight and obese respectively. In obese, lipid profile varied according to gender (p 5) was (40.50%). Low HDL-cholesterolemia (75.4%) was the main lipid abnormality found, independently of gender, age, fat location. Waist circumference (WC) unlike body mass index (BMI) and body fatness was associated to hypercholesterolemia. Conclusion: Low HDL-cholesterolemia and high atherogenic risk profile are more prevalent amongst Cameroonian adults. Promotion of healthy lifestyle including good eating habits shall be encouraged to reduce mortality from cardiovascular disease complications.

Severe Combined Dyslipidemia With a Complex Genetic Basis

Background. Familial dysbetalipoproteinemia (also known as type 3 hyperlipoproteinemia) is typically associated with homozygosity for the apolipoprotein E2 isoform, but also sometimes with dominant rare missense variants in the APOE gene. Patients present with roughly equimolar elevations of cholesterol and triglyceride (TG) due to pathologic accumulation of remnant lipoprotein particles. Clinical features include tuberoeruptive xanthomas, palmar xanthomas, and premature vascular disease. Case. A 48-year-old male presented with severe combined dyslipidemia: total cholesterol and TG were 11.5 and 21.4 mmol/L, respectively. He had dyslipidemia since his early 20s, with tuberous xanthomas on his elbows and knees. His body mass index was 42 kg/m2. He also had treated hypertension, mild renal impairment, and a history of gout. He had no history of cardiovascular disease, peripheral arterial disease, or pancreatitis. Multiple medications had been advised including rosuvastatin, ezetimibe, fenofibrate, and alirocumab, but his lipid levels were never adequately controlled. Genetic Analysis. Targeted next-generation sequencing identified (1) the APOE E2/E2 homozygous genotype classically described with familial dysbetalipoproteinemia; (2) in addition, one APOE E2 allele contained the rare heterozygous missense variant p.G145D, previously termed apo E-Bethesda; (3) a rare heterozygous APOC2 nonsense variant p.Q92X; and (4) a high polygenic risk score for TG levels (16 out of 28 TG-raising alleles) at the 82nd percentile for age and sex. Conclusion. The multiple genetic “hits” on top of the classical APOE E2/E2 genotype likely explain the more severe dyslipidemia and refractory clinical phenotype.

Molecular mechanisms, prevalence, and molecular methods for familial combined hyperlipidemia disease: A review.

Familial combined hyperlipidemia (FCHL) is the most common genetic dyslipidemia disorder which is accompanied by increasing of triglyceride and cholesterol. This disorder is a complex genetic disease although it also has monogenic forms. The familial form has several criteria for diagnosis that can be distinguished of nonfamilial position. It has been shown that a variety of internal and external risk factors are involved in the pathogenesis of FCHL. Environmental factors and the genetic background also play an important role in the FCHL pathogenesis. Many mechanisms and pathways are involved in lipid metabolism (ie, dysfunctional adipose tissue, hepatic fat and very low-density lipoprotein overproduction, triglyceride-rich lipoproteins, and clearance of low-density lipoprotein particles) that could lead to FCHL. Individuals with a positive family history like those who have a positive family history of cardiovascular diseases are more predispositions for this disorder. To date several methods have been used to identify the genetic background of the FCHL. In the current review, we summarized the prevalence and the molecular mechanisms involved in the FCHL disease. Moreover, we highlighted the used molecular methods for determining the genes involved in the FCHL.

Incidence of cardiovascular disease in familial combined hyperlipidemia: A 15-year follow-up study

Background and aimsFamilial combined hyperlipidemia (FCHL) is a complex dyslipidemia associated with premature cardiovascular disease (CVD). The present study was conducted to 1) determine the incidence of CVD in FCHL in this era of protocolled, primary prevention; and 2) examine whether cardiovascular risk estimation based on the Systemic Coronary Risk Estimation (SCORE) chart, as proposed in the 2016 ESC/EAS guidelines for the management of dyslipidemia, is justified in FCHL. MethodsFCHL patients, their normolipidemic (NL) relatives and spouses originally included in our baseline cohort in 1998–2005 (n = 596) were invited for a follow-up visit to determine the incidence of CVD, defined as (non-)fatal coronary artery disease, ischemic stroke and peripheral artery disease requiring invasive treatment. ResultsFollow-up data (median: 15 years) was acquired for 85% of the original cohort. The cumulative incidence of CVD was significantly higher in FCHL patients than in spouses (23.6% versus 4.7%; hazard ratio (HR): 5.4, 95%CI: 2.0–14.6; HR after adjustment for risk factors included in SCORE: 4.7, 95%CI: 1.6–13.8), but not in NL relatives compared to spouses (5.8% versus 4.7%). The SCORE chart tended to overestimate CVD risk in the spouses (observed [O]/expected [E] ratio:0.2, p = 0.01), but not in FCHL patients (O/E:1.3, p = 0.50). ConclusionsRisk of primary CVD is still substantially increased in FCHL patients, despite preventive measures. The overestimation of CVD risk by the SCORE chart – a nowadays frequently observed phenomenon thanks to improved primary prevention – was not seen in FCHL. These results suggest that more aggressive treatment is justified to avoid excessive CVD in FCHL.

Abstract 16981: Prevalence of Primary Severe Hypertriglyceridemia in Olmsted County, Minnesota: A Community-Based Study

Introduction: Severe hypertriglyceridemia (SHTG), defined as plasma triglyceride (TG) level ≥ 500 mg/dl, is a risk factor for cardiovascular disease. In the NHANES dataset (2001 - 2006), the prevalence of SHTG was 1.7%. However, the prevalence of primary SHTG in the community is unknown. We conducted a community-based study to estimate the prevalence of primary SHTG, in Olmsted County, Minnesota. Methods: We used the Rochester Epidemiology Project (REP) records linkage system to identify individuals with TG ≥ 500 mg/dl between 1998-2015. Index date was defined as the first documentation of TG ≥500 mg/dl during the study period. We excluded individuals with mixed hyperlipidemia (TG ≥500 mg/dl and non-high density lipoprotein (HDL) cholesterol ≥190 mg/dl). HTG was defined as secondary in the presence of hypothyroidism, biliary obstruction, nephrotic syndrome, uncontrolled diabetes, pregnancy, liver disease, renal failure, BMI ≥35 and medication use (isotretinoin, tetracyclines, anti-retrovirals). Primary HTG was defined as absence of an identifiable secondary etiology. Characteristics of the primary SHTG individuals were ascertained from the electronic health record. Results: SHTG was identified in 3802 individuals of whom 2511 had mixed hyperlipidemia, 743 had a secondary cause for SHTG and the remaining 548 had primary SHTG. Using the 2015 population census of 151,436 for Olmsted County, the prevalence of SHTG was 2.5%, of secondary SHTG was 0.49% and of primary SHTG was 0.36%. Only half of the primary SHTG group had a diagnosis of dyslipidemia in the electronic health record and 44.3% were on lipid-lowering therapy on index date. Characteristics of individuals with primary SHTG are summarized in Table 1. Conclusions: These data highlight that primary SHTG is relatively common (≈1 in 300, similar to the prevalence of familial hypercholesterolemia), underdiagnosed and undertreated.

Avaliação da frequência de hiperlipidemia de jejum e pósprandial em schnauzers hígidos e das alterações hepáticas e resistência insulínica em schnauzers hiperlipidêmicos

Hyperlipidemia in dogs can be primary or secondary. Secondary hyperlipidemia is the most frequent form, and it is associated to endocrine disorders, obesity, and glucocorticoid therapy. Primary hypertriglyceridemia of Miniature Schnauzers is a well-known condition and may predispose to the development of pancreatitis, diabetes, liver and neurological disorders. The goal of this study was to identify the prevalence of hyperlipidemia in 55 asymptomatic Miniature Schnauzers, and the frequency of hepatic changes and insulin resistance in hyperlipidemic dogs. Of the 55 dogs in the study, 56.4% had primary hyperlipidemia. In 23.6% of these cases, the hyperlipidemia was characterized by isolated hypertriglyceridemia, while isolated hypercholesterolemia was present in 20% of the cases. Mixed hyperlipidemia was observed in 12.7% of hyperlipidemic dogs. Hypertriglyceridemia was considered mild in 21/8% of the cases, and moderate to severe in 14.5% of them. Serum ALT was elevated in 32.3% of hyperlipidemic dogs and serum AF was elevated in 38.7% of the cases. Insulin resistance was observed in 90.3% of hyperlipidemic dogs. Given the high prevalence of hyperlipidemia in our sample, and the observed metabolic changes in hyperlipidemic dogs, we suggest that all Miniature Schnauzers are screened for hyperlipidemia as an aid to early diagnosis of this disorder and prevention of complications.

Diabetic Dyslipidemia: Epidemiology and Prevention of Cardiovascular Disease and Implications of Newer Therapies.

Dyslipidemia in patients with T2DM confers significant additional risk of adverse outcomes to patients with cardiovascular disease (CVD). These patients carry residual risk of adverse outcomes despite optimal management with conventional therapy such as lifestyle changes and statin therapy. The role of both nonstatin monotherapy in statin-intolerant patients and combination therapy with statins in patients with high risk of CVD events has been well studied. We sought to review the role of newer therapies in risk reduction in these patients. Traditionally, non-statin options have included medications such as niacin, ezetimibe, fenofibrate, and n-3 fatty acids. Recently, drugs such as ezetimibe, inclisiran, and PCSK9 inhibitors have been studied with favorable results without an increased risk of developing new-onset diabetes. These medications hold the promise of increasing options to reduce cardiovascular risk in patients with T2DM. The role of newer non-statin therapies in patients with diabetic dyslipidemia in combination with statins needs to be further explored.

FAMILIAL COMBINED HYPERLIPIDEMIA: CURRENT KNOWLEDGE, PERSPECTIVES, AND CONTROVERSIES.

Familial combined hyperlipidemia (FCHL) is the most prevalent primary dyslipidemia; however, it frequently remains undiagnosed and its precise definition is a subject of controversy. FCHL is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B. FCHL is an oligogenic primary lipid disorder, which can occur due to the interaction of several contributing variants and mutations along with environmental triggers. Controversies surrounding the relevance of identifying FCHL as a cause of isolated hypertriglyceridemia and a differential diagnosis of familial hypertriglyceridemia are offset by the description of associations with USF1 and other genetic traits that are unique for FCHL and that are shared with other conditions with similar pathophysiological mechanisms. Patients with FCHL are at an increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, non-alcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome. Management usually requires lipid-lowering therapy directed toward reducing cholesterol and triglyceride concentrations along with cardiovascular risk protection. In recent years, the number of research studies on FCHL has been decreasing, mainly due to a lack of recognition of its impact on disease burden and comorbidity and the complexity in identifying probands for studies. This creates areas of opportunity to develop research for FCHL in epidemiology, genetics, pathophysiology, therapeutics, and cardiovascular risk management, which are discussed in depth in this review. (REV INVEST CLIN. 2018;70:224-36).

Administration of CORM-2 inhibits diabetic neuropathy but does not reduce dyslipidemia in diabetic mice.

The antinociceptive effects of the carbon monoxide-releasing molecule tricarbonyldichlororuthenium (II) dimer (CORM-2) during chronic pain are well documented, but most of its possible side-effects remain poorly understood. In this work, we examine the impact of CORM-2 treatment on the lipoprotein profile and two main atheroprotective functions attributed to high-density lipoprotein (HDL) in a mouse model of type 1 diabetes while analyzing the effect of this drug on diabetic neuropathy. Streptozotocin (Stz)-induced diabetic mice treated with CORM-2 (Stz-CORM-2) or vehicle (Stz-vehicle) were used to evaluate the effect of this drug on the modulation of painful diabetic neuropathy using nociceptive behavioral tests. Plasma and tissue samples were used for chemical and functional analyses, as appropriate. Two main antiatherogenic properties of HDL, i.e., the ability of HDL to protect low-density lipoprotein (LDL) from oxidation and to promote reverse cholesterol transport from macrophages to the liver and feces in vivo (m-RCT), were also assessed. Stz-induced diabetic mice displayed hyperglycemia, dyslipidemia and pain hypersensitivity. The administration of 10 mg/kg CORM-2 during five consecutive days inhibited allodynia and hyperalgesia and significantly ameliorated spinal cord markers (Cybb and Bdkrb1expression) of neuropathic pain in Stz mice, but it did not reduce the combined dyslipidemia shown in Stz-treated mice. Its administration to Stz-treated mice led to a significant increase in the plasma levels of cholesterol (∼ 1.4-fold vs. Ctrl, ∼ 1.3- fold vs. Stz-vehicle; p < 0.05) and was attributed to significant elevations in both non-HDL (∼ 1.8-fold vs. Ctrl; ∼ 1.6-fold vs. Stz-vehicle; p < 0.05) and HDL cholesterol (∼ 1.3-fold vs. Ctrl, ∼ 1.2-fold vs. Stz-vehicle; p < 0.05). The increased HDL in plasma was not accompanied by a commensurate elevation in m-RCT in Stz-CORM-2 compared to Stz-vehicle mice; instead, it was worsened as revealed by decreased [3H]-tracer trafficking into the feces in vivo. Furthermore, the HDL-mediated protection against LDL oxidation ex vivo shown by the HDL isolated from Stz-CORM-2 mice did not differ from that obtained in Stz-vehicle mice. In conclusion, the antinociceptive effects produced by a high dose of CORM-2 were accompanied by antioxidative effects but were without favorable effects on the dyslipidemia manifested in diabetic mice.

Metabolic Alterations Associated with Atorvastatin/Fenofibric Acid Combination in Patients with Atherogenic Dyslipidaemia: A Randomized Trial for Comparison with Escalated-Dose Atorvastatin

In the current study, the metabolic effects of atorvastatin dose escalation versus atorvastatin/fenofibric acid combination were compared using metabolomics analyses. Men and women with combined hyperlipidaemia were initially prescribed atorvastatin (10 mg, ≥4 weeks). Patients who reached low-density lipoprotein-cholesterol targets, but had triglyceride and high-density lipoprotein-cholesterol levels ≥150 mg/dL and <50 mg/dL, respectively, were randomized to receive atorvastatin 20 mg or atorvastatin 10 mg/fenofibric acid 135 mg for 12 weeks. Metabolite profiling of serum was performed and changes in metabolites after drug treatment in the two groups were compared. Analysis was performed using patients’ samples obtained before and after treatment. Of 89 screened patients, 37 who met the inclusion criteria were randomized, and 34 completed the study. Unlike that in the dose-escalation group, distinct clustering of both lipid and aqueous metabolites was observed in the combination group after treatment. Most lipid metabolites of acylglycerols and many of ceramides decreased, while many of sphingomyelins increased in the combination group. Atorvastatin dose escalation modestly decreased lysophosphatidylcholines; however, the effect of combination therapy was variable. Most aqueous metabolites decreased, while l-carnitine remarkably increased in the combination group. In conclusion, the atorvastatin/fenofibric acid combination induced distinct metabolite clustering. Our results provide comprehensive information regarding metabolic changes beyond conventional lipid profiles for this combination therapy.

Genome-wide enrichment of m6A-associated single-nucleotide polymorphisms in the lipid loci

N6-methyladenosine (m6A) plays critical roles in many fundamental biological processes and a variety of diseases. The aim of this study was to investigate the effect of m6A-SNPs on lipid levels. We examined the association of m6A-SNPs with lipid levels in a genome-wide association studies (GWAS) of 188,578 individuals. Furthermore, we performed expression quantitative trait loci and differential expression analyses to add additional information for the identified m6A-SNPs. We found 1,655 m6A-SNPs in the GWAS dataset. Among them, 395 (23.9%) were nominally (P < 0.05) associated with lipid levels, and 22 reached the genome-wide significance level (P < 5.0 × 10-8). Using the fgwas method we found that SNPs, which influence high-density lipoprotein cholesterol (log2 enrichment of 3.35, 95% CI: (0.92, 4.48)) and TG (log enrichment of 3.22, 95% CI: (1.18, 4.44)), were enriched in m6A methylation. The high confidence (determined by miCLIP experiment) m6A-SNP rs6859 at the 3'-untranslated region of PVRL2 was associated with high-density lipoprotein cholesterol (P = 1.21 × 10-15), low-density lipoprotein cholesterol (P = 1.77 × 10-106), total cholesterol (P = 4.82 × 10-82), and triglycerides (P = 8.10 × 10-5) levels, coronary artery disease (P = 0.01), as well as PVRL2 mRNA expression in artery tibial (P = 2.38 × 10-6) and whole blood (P = 5.59 × 10-19). Moreover, PVRL2 was differentially expressed in adipose tissue of familial combined hyperlipidemia (P = 9.27 × 10-4). The present study found plenty of lipid-associated m6A-SNPs and demonstrated that m6A-SNPs may play important roles in lipid metabolisms. Further studies were needed to elucidate the mechanisms.

The spectrum of type III hyperlipoproteinemia

Type III hyperlipoproteinemia is a highly atherogenic dyslipoproteinemia characterized by hypercholesterolemia and hypertriglyceridemia due to markedly increased numbers of cholesterol-enriched chylomicron and very-low-density lipoprotein (VLDL) remnant lipoprotein particles. Type III can be distinguished from mixed hyperlipidemia based on a simple diagnostic algorithm, which involves total cholesterol, triglycerides, and apolipoprotein B (apoB). However, apoB is not measured routinely. The objective of the present study was to determine if patients with type III could be distinguished from mixed hyperlipidemia based on lipoprotein lipids. Classification was based first on total cholesterol and triglyceride and then on the apoB diagnostic algorithm using apoB plus total cholesterol plus triglycerides, and validated by sequential ultracentrifugation. Four hundred and forty normals, 637 patients with hypertriglyceridemia, and 714 with hypertriglyceridemia and hypercholesterolemia were studied. Plasma lipoproteins were separated by sequential ultracentrifugation and heparin-manganese precipitation. Cholesterol, triglyceride, and apoB were measured in plasma and isolated lipoprotein fractions. Of the 1351 patients with hypertriglyceridemia, 49 had type III hyperlipoproteinemia, as diagnosed by the apoB algorithm and validated by ultracentrifugation. Plasma triglycerides were higher in the type III subjects: 4.16mmol/L (3.35-6.08, 25th-75th percentile), but there was considerable overlap with the hypertriglyceridemic subjects 2.65mmol/L (1.91-4.20, 25th-75th percentile) and the combined hyperlipidemic subjects 3.02mmol/L (2.07-5.32, 25th-75th percentile). Similarly, total cholesterol was 4.79mmol/L (4.31-5.58, 25th-75th percentile) for type III vs 5.5 mmol/L (4.64-5.78, 25th-75th percentile) and 7.02 mmol/L (6.39-7.96, 25th-75th percentile), respectively. By contrast, as identified by the apoB algorithm, the VLDL-C/TG, VLDL-C/VLDL-TG, VLDL-C/VLDL apoB, and VLDL apoB/LDL apoB ratios were all higher in type III than in the other hypertriglyceridemic dyslipoproteinemias with the exception of type V as diagnosed by the apoB algorithm. Cholesterol and triglycerides cannot reliably distinguish type III hyperlipoproteinemia from mixed hyperlipidemia. Adding apoB and applying the apoB algorithm makes reliable diagnosis possible and easy. However, unless apoB is introduced into routine clinical care, type III hyperlipoproteinemia will often not be recognized. Given the cardiovascular risk associated with type III and its responsiveness to treatment, this should not be acceptable.

Metabolic disorders and inflammation are associated with familial combined hyperlipemia

BackgroundFamilial Combined Hyperlipidemia (FCH) is related to different metabolic disorders. The objective of this study was to evaluate the presence of alterations of hydrocarbonated metabolism and lipid profile together with inflammatory and adhesion molecules in subjects with FCH compared to controls. Methods75 HFC patients and 75 healthy individuals were studied. Glucose, insulin, HOMA-IR index and lipid parameters, in addition to anti-oxidized LDL antibodies (Anti ox-LDL), small and dense LDL (sdLDL) and HDL subfractions, proinflammatory cytokines and adhesion molecules were measured. ResultsFCH patients showed higher levels of hydrocarbonated metabolism parameters, total cholesterol, triglycerides, LDLc, Apolipoprotein B and non-HDLc (p < .001), and lower levels of HDLc (p < .001) and Apolipoprotein AI (p < .05) than controls. In addition, the inflammatory markers hsCRP, IL-6, IL-8, P-selectin, E-selectin and ICAM were all higher with (p < .05) respect to controls. The increase of sdLDL was correlated with the presence of IR and IL-6 levels. Significant differences in diameter and percentage of phenotype B LDL, small HDL subfractions and Anti ox-LDL were also detected between patients and controls. ConclusionsThe lipid characteristics of FCH are confirmed by IR and a low grade inflammatory state in patients, and are associated with the predominance of sdLDL and Anti ox-LDL.

Review of referral criteria to lipid clinics and outcomes of treatment in four UK centres.

Little data exist on the referral patterns and effectiveness of lipid clinics. An audit was conducted in four clinics of 100 consecutive referrals each. Data were recorded on referral criteria, cardiovascular disease (CVD) risk factors, drug history, investigations, diagnoses, therapies, results and referrals. Patients were aged 56±14years, 47% were male and 87% were primary prevention. Risk factors included smoking (16%), type 2 diabetes (13%) and hypertension (13%). Referrals were made for hypercholesterolaemia (68%), diagnosis of FH (31%), statin intolerance (23%) and hypertriglyceridaemia (23%). Initial total cholesterol (TC) was 7.65±2.64mmol/L, triglycerides (TG) 2.17 (0.41-76.9mmol/L) mmol/L, HDL-C 1.53±0.71mmol/L, LDL-C 4.57±1.66mmol/L with non-HDL-C 5.90±2.09mmol/L. Criteria for FH were met in 21% with genetic testing in 13% and lipid cascade testing in 30% of index cases. Triglycerides >20mmol/L were present in 4%. The diagnosis was changed in 21%: hypercholesterolaemia (7%), mixed hyperlipidaemia (7%) and hypertriglyceridaemia (7%). Hepatic steatosis was identified in 14.5%. Lipoprotein(a) levels >125nmol/L occurred in 41% in one clinic. Therapy changes included altered statins (40%), addition of a fibrate (11%) or ezetimibe (8%). These reduced TC by 1.92mmol/L (19%; P=0.0001), LDL-C 1.07mmol/L (15%; P=0.02), non-HDL-C 1.50mmol/L (16%; P<0.001), and TG 2.3 (-4 to 38) mmol/L (16%; P<0.001) with 11% extra achieving TG <5mmol/L while HDL-C increased by 7% (P=0.37). Lipid clinics have diverse functions including diagnosis of FH, managing severe hypercholesterolaemia, mixed hyperlipidaemia and statin intolerance. Effectiveness criteria of average reductions of 1.5mmol/L in TC or non-HDL-C, 1mmol/L in LDL-C and 2mmol/L in TG would be reasonable for newly referred patients.

Estimation of the prevalence of cholesteryl ester storage disorder in a cohort of patients with clinical features of familial hypercholesterolaemia.

Familial hypercholesterolaemia is caused by variants in the low-density lipoprotein cholesterol metabolic pathway involving LDLR, APOB and PCSK9 genes. A national genetic testing service in Wales, UK has observed that no familial hypercholesterolaemia variant is found in almost 80% patients with the familial hypercholesterolaemia phenotype. It has recently been suggested that some adult patients with a familial hypercholesterolaemia phenotype may have cholesteryl ester storage disease which can also present as a mixed hyperlipidaemia. The commonest genetic cause of cholesteryl ester storage disease is an exon 8 splice junction variant in the LIPA gene (rs116928232, c.894G>A; E8SJM) previously found to have an allele frequency of 0.0011 (1 in 450 individuals) in a large European population. This study investigated the prevalence of the E8SJM in patients with a familial hypercholesterolaemia phenotype in Wales, UK. A total of 1203 patients with a clinical suspicion of familial hypercholesterolaemia but no familial hypercholesterolaemia variant were invited to participate. Of these, 668 patients provided informed written consent. Stored DNA samples from 663 patients were genotyped for the E8SJM variant. Three heterozygotes were identified (allele frequency 0.0023). Whole gene sequencing of the LIPA gene was undertaken in these three individuals, but no other variants were found. Therefore, there were no cholesteryl ester storage disease patients (homozygote or compound heterozygote) identified in this cohort. The allele frequency 0.0023 (1 in 221 individuals) for the E8SJM variant was more prevalent in this cohort than in a European population study; however, no cholesteryl ester storage disease homozygotes were identified. We found no evidence to support routine testing for cholesteryl ester storage disease in adult patients with a familial hypercholesterolaemia phenotype.

P5552Prevalence of familial hypercholesterolaemia and familial combined hyperlipidaemia in very young survivors of myocardial infarction and association with the severity of atheromatus burden

P5552Prevalence of familial hypercholesterolaemia and familial combined hyperlipidaemia in very young survivors of myocardial infarction and association with the severity of atheromatus burden

Hypertransaminasemia (HT) in a cohort with familial combined hyperlipidemia (FCH): Prevalence and risk factors

Aim: Hepatic steatosis (HS) is frequently associated with metabolic disorders such as hypercholesterolemia, and is also a marker of vascular risk. The gold standard for its diagnosis is liver biopsy, which, due to the risks involved, is rarely achieved; so in most cases a probability diagnosis is resorted to with analytical and image resources. Usually HS is manifested analytically with HT, being able to become HT a marker of HS, although nowadays we do not know the relationship between both. Objective is to know the prevalence of HT and the factors related to its appearance in a cohort of FCH

Hypertransaminasemia and hepatic steatosis: Characteristics and temporary evolution in a cohort of familial combined hyperlipidaemia patients

Hypertransaminasemia and hepatic steatosis: Characteristics and temporary evolution in a cohort of familial combined hyperlipidaemia patients

The importance of ldl-cholesterol and triglycerides levels assessment for familial hypercholesterolemia screening in the middle-aged Lithuanian adults

Aim: The aim of this study was to elucidate whether assessment of triglycerides (TG) levels together with LDL-cholesterol (LDL-C) levels can help to distinguish mixed hyperlipidemia from familial hypercholesterolemia (FH) and improve the diagnosis of FH.