Impact of Mediterranean Diet Adherence on Lipid Profiles in Pediatric Primary Dyslipidemia: Insights from the Updated KIDMED Score.

: The Mediterranean diet (MD) has been shown to have cardioprotective effects, as demonstrated in adults, but data on hyperlipidemic children are scanty. This study assessed the impact of MD adherence, evaluated with the updated KIDMED score, on the lipid profiles of pediatric patients affected by primary hyperlipidemias. This retrospective study included data on 157 children (mean age: 10.

Awareness of cholesterol levels in 46,309 Italian children and adolescents unveils the tip of the iceberg.

Background And Aims: Cardiovascular diseases (CVD) risk factors include high cholesterol. Children with total cholesterol (TC) levels ≥ 170 mg/dL are usually considered hypercholesterolemic. This study aimed at investigating the awareness of TC levels in a large Italian paediatric population and at looking for a possible correlation between their TC and TC in their parents' blood.

Simplified Criteria for Identification of Familial Hypercholesterolemia in Children: Application in Real Life.

Background: The diagnosis of familial hypercholesterolemia (FH) in children is primarily based on main criteria including low-density lipoprotein cholesterol (LDL-C) levels, increased in the proband and relatives, and its inheritance. Two other relevant parameters are symptoms, rarely occurring in children, as rare are the FH homozygous patients, and the mutation detection of related genes. The latter allows the final diagnosis, although it is not commonly available.

Apolipoprotein B and Lipid Profile in Italian Children and Adolescents.

Rationale: The prevention of cardiovascular (CV) disease is mandatory from childhood onwards. Among biochemical markers related to the clinical cardiovascular outcome, LDL cholesterol (LDL-C), non-HDL-C and apolipoprotein B (ApoB) are recognized as main target parameters. Emphasis on ApoB concentrations is growing, as representative of any class of atherogenic lipoprotein.

Clinical Approach in the Management of Paediatric Patients with Familial Hypercholesterolemia: A National Survey Conducted by the LIPIGEN Paediatric Group.

Detection and treatment of patients with familial hypercholesterolemia (FH) starting from childhood is fundamental to reduce morbidity and mortality. The activity of National realities such as the LIPIGEN (LIpid transPort disorders Italian GEnetic Network) Paediatric Group, founded in 2018, is a milestone in this context. The aim of this exploratory survey, conducted in October 2021 among Italian lipid clinics included in the LIPIGEN Paediatric Group, was to investigate the current clinical approach in the management and treatment of paediatric patients with suspected FH.

The Effects of Omega 3 and Omega 6 Fatty Acids on Glucose Metabolism: An Updated Review.

Massive changes have occurred in our diet. A growing consumption of vegetal oils rich in omega-6 (ω-6) and a depletion of omega-3 (ω-3) fatty acids (FAs) in our food has led to an imbalance between ω-3 and ω-6. In particular, eicosapentaenoic (EPA)/arachidonic acid (AA) ratio seems to be an indicator of this derangement, whose reduction is associated to the development of metabolic diseases, such as diabetes mellitus.

Mediterranean Dietary Treatment in Hyperlipidemic Children: Should It Be an Option?

Background: Diet is considered the cornerstone of lipid management in hyperlipidemic children but evidence to demonstrate the effects of nutrient benefits on the lipid profile is limited.

Aim: The aim of this study is to evaluate the impact of the Mediterranean diet on low-density lipoprotein (LDL-C) and non-high density lipoprotein (HDL-C) decrease in primary hyperlipidemia affected children and in the achievement of therapeutical target levels.

Methods: A retrospective cohort study was used, recruiting = 223 children (10.

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Familial hypercholesterolemia (FH) is the most common genetic disease caused by variants in LDLR, APOB, PCSK9 genes; it is characterized by high levels of LDL-cholesterol and premature cardiovascular disease. We aim to perform a retrospective analysis of a genetically screened population (528 unrelated patients-342 adults and 186 children) to evaluate the biochemical and clinical correlations with the different genetic statuses. Genetic screening was performed by traditional sequencing and some patients were re-analyzed by next-generation-sequencing.

Lipid profile assessed in the family pediatrician's office: the COLIBRI'- SIMPeF study.

There is limited information on the prevalence of dyslipidemia in the Italian pediatric population. Aim of the study was to evaluate total cholesterol, high-density lipoprotein (HDL)-cholesterol and triglyceride levels, and associated factors in a large sample of Italian children, applying a micro-sampling procedure in the family pediatrician's office. In a population of 1910 children (50.

Eight-week hempseed oil intervention improves the fatty acid composition of erythrocyte phospholipids and the omega-3 index, but does not affect the lipid profile in children and adolescents with primary hyperlipidemia.

Children affected by primary hyperlipidemia have a high risk of developing cardiovascular diseases (CVDs) during adulthood. Several studies have reported a positive association between the intake of polyunsaturated fatty acids (PUFAs) and improvements in lipid markers and CVD risk. Dietary supplements may represent a potential strategy in the management of hyperlipidemia.

Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio.

Background Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in genes involved in low-density lipoprotein (LDL) uptake (LDLR, APOB and PCSK9). Genetic diagnosis is particularly useful in asymptomatic children allowing for the detection of definite FH patients. Furthermore, defining their genetic status may be of considerable importance as the compound heterozygous status is much more severe than the heterozygous one.

Effect of short-term hazelnut consumption on DNA damage and oxidized LDL in children and adolescents with primary hyperlipidemia: a randomized controlled trial.

Children with primary hyperlipidemia are prone to develop premature atherosclerosis, possibly associated with increased oxidative stress. Nutritional therapy is the primary strategy in the treatment of hyperlipidemia and associated conditions. Dietary interventions with bioactive-rich foods, such as nuts, may contribute to the modulation of both lipid profile and the oxidative/antioxidant status.

Evidence of dysbiosis in the intestinal microbial ecosystem of children and adolescents with primary hyperlipidemia and the potential role of regular hazelnut intake.

Hyperlipidemia starts at a pediatric age and represents an unquestionable risk factor for cardiovascular disease. Modulation of the intestinal microbial ecosystem (IME), in principle, can ameliorate lipid profiles. In this study, we characterized the IME of children and adolescents with primary hyperlipidemia by analyzing fecal samples through 16S rRNA gene profiling (n = 15) and short chain fatty acid (SCFA) quantification (n = 32).

Lysosomal Acid Lipase Deficiency: Could Dyslipidemia Drive the Diagnosis?

LAL-deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulation of cholesteryl esters and triglycerides, whose manifestations are very heterogeneous in terms of the age of onset, severity and the type of clinical and radiological manifestations. Dyslipidemia, hepatomegaly and hepatosteatosis with increased levels of transaminases are the most common features. The increased risk of premature atherosclerosis and cardiovascular disorders, secondary to a generalized alteration of lipid profile and lipoprotein dysfunction associated with LAL-D, has been increasingly pointed out.

Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.

Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by pathogenic variants in genes encoding for LDL receptor (LDLR), Apolipoprotein B and Proprotein convertase subtilisin/kexin type 9 (PCSK9). Among PCSK9 variants, only Gain-of- Function (GOF) variants lead to FH. Greater attention should be paid to the classification of variants as pathogenic.

Effect of hazelnut on serum lipid profile and fatty acid composition of erythrocyte phospholipids in children and adolescents with primary hyperlipidemia: A randomized controlled trial.

Background & Aim: Regular intake of nuts improves lipid profile and thus reduces the cardiovascular (CV) risk associated with hyperlipidemia. The aim of the study was to investigate the effect of a dietary intervention with hazelnuts (HZNs, 15-30 g/day, depending on patient weight) on serum lipid profile, anthropometric parameters and fatty acids (FAs) composition of erythrocyte phospholipids in children and adolescents with primary hyperlipidemia.

Methods: Eight-week randomized, single blind, controlled, three-arm, parallel-group study.

Serum lipid profile and fatty acid composition of erythrocyte phospholipids in children and adolescents with primary hyperlipidemia.

This study aimed at characterizing the fatty acid (FA) composition of red blood cell (RBC) phospholipids in children and adolescents with primary hyperlipidemia, and to ascertain potential association with serum lipid profile and dietary factors. At this purpose, 54 probands aged 6-17 years were recruited. Subjects showed a low omega-3 index (eicosapentaenoic acid, EPA + docosahexaenoic acid, DHA <4%).

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.

Purpose: The purpose of this study was to enhance understanding of lysosomal acid lipase deficiency (LALD) in infancy.

Methods: Investigators reviewed medical records of infants with LALD and summarized data for the overall population and for patients with and without early growth failure (GF). Kaplan-Meier survival analyses were conducted for the overall population and for treated and untreated patients.

Cholesterol trafficking-related serum lipoprotein functions in children with cholesteryl ester storage disease.

Objective: Serum lipoproteins influence cell cholesterol content by delivering and removing cholesterol to/from cells, functions mainly exerted by LDL and HDL, respectively. Especially in the case of HDL, structure and composition are crucial for function, beyond serum levels. Cholesteryl ester storage disease (CESD) is caused by LIPA gene mutations and reduced activity of lysosomal acid lipase (LAL), the enzyme responsible for hydrolysis of cholesteryl esters and TG.

Clinical Features of Lysosomal Acid Lipase Deficiency.

Objective: The aim of this study was to characterize key clinical manifestations of lysosomal acid lipase deficiency (LAL D) in children and adults.

Methods: Investigators reviewed medical records of LAL D patients ages ≥5 years, extracted historical data, and obtained prospective laboratory and imaging data on living patients to develop a longitudinal dataset.

Results: A total of 49 patients were enrolled; 48 had confirmed LAL D.

Atherogenic dyslipidemia and cardiovascular risk factors in obese children.

Childhood obesity when associated with serum lipoprotein changes triggers atherosclerosis. Evidences suggest that the atherosclerotic process begins in childhood and that the extent of early atherosclerosis of the aorta and coronary arteries can be associated with lipoprotein levels and obesity. Furthermore, many studies in childhood demonstrate an important relationship between parameters of insulin sensitivity, body fat distribution, and the development of lipid abnormalities.

Bifidobacteria supplementation: effects on plasma lipid profiles in dyslipidemic children.

Objective: Preclinical investigations support the use of probiotics in the treatment of hypercholesterolemia, but clinical evidence is often contrasting. The aim of this study was to evaluate the effects of a probiotic formulation containing three Bifidobacterium strains on lipid profiles in children affected by primary dyslipidemia.

Methods: Thirty-eight children with dyslipidemia, ages 10.

Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.

Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage disease caused by deleterious mutations in the LIPA gene. The age at onset and rate of progression vary greatly and this may relate to the nature of the underlying mutations. Patients presenting in infancy have the most rapidly progressive disease, developing signs and symptoms in the first weeks of life and rarely surviving beyond 6 months of age.