Aortic valve and arterial calcification in patients with familial hypercholesterolemia.

Heterozygous familial hypercholesterolemia (heFH) is an autosomal dominant lipid metabolism disorder. Its prevalence is 1:250-1:300 people in the population. Patients with heFH have an up to 13-fold increased risk of premature coronary artery disease (CAD).

Targeted sequencing of a gene panel in patients with familial hypercholesterolemia from Southern Poland.

Introduction: Familial hypercholesterolemia (FH) is an autosomal dominant monogenic lipid metabolism disorder characterized by a significantly elevated level of low‑density lipoprotein (LDL) cholesterol and leading to premature ischemic heart disease. FH is caused by mutations in the LDLR, APOB, and PCSK9 genes; however, these mutations account for only about 40% of FH cases. In order to obtain a genetic diagnosis of FH, sequencing of other genes involved in the lipid metabolism might be useful.

Effectiveness and safety of PCSK9 inhibitor therapy in patients with familial hypercholesterolemia within a therapeutic program in Poland: Preliminary multicenter data.

Background: In Poland, treatment with proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors has become available free of charge in a therapeutic program. Assessed herein, is the efficacy and safety of alirocumab and evolocumab in patients with heterozygous familial hypercholesterolemia (FH).

Methods: Data of 55 adult FH patients who participated in the program were analyzed upon meeting the criteria established by the Ministry of Health (low density lipoprotein cholesterol [LDL-C] above 160 mg/dL on max.

Serum PCSK9 Correlates with PTX3 and Apolipoproteins B, A1, and C3 Concentrations in Patients with Type 2 Diabetes.

Proprotein convertase subtilisin/kexin type 9 (PCSK9) is involved in the regulation of LDL metabolism. There is evidence that circulating PCSK9 is a cardiovascular risk factor. In this study, we determined factors associated with circulating PCSK9 in a group of patients with type 2 diabetes mellitus (DM2).

Correlates of pentraxin 3 serum concentration in men and women with type 2 diabetes.

Elevated levels of plasma pentraxin 3 (PTX3), a marker of inflammation, are associated with the risk of developing cardiovascular diseases in the general population, as well as in patients with type 2 diabetes (DM2). In this study, we aimed to determine factors associated with PTX3 serum concentrations in men and women with DM2. The study included 116 consecutive patients (67 men and 49 women) with DM2 from an outpatient diabetic clinic.

Serum pentraxin 3 concentration in patients with type 2 diabetes and nonalcoholic fatty liver disease.

Introduction: Nonalcoholic fatty liver disease (NAFLD) is common in patients with type 2 diabetes (T2D). Pentraxin 3 (PTX3), a marker of inflammation, is a cardiovascular risk factor.

Objectives: We examined clinical and biochemical factors associated with serum PTX3 concentrations in patients with T2D with and without NAFLD.

Carotid artery plaques - Are risk factors the same in men and women with familial hypercholesterolemia?

Background And Aims: High low-density lipoprotein (LDL)-cholesterol levels are a major cause of premature coronary heart disease (CHD) and death in patients with familial hypercholesterolemia (FH). It is uncertain whether these risk factors affect men and women equally. We aimed to compare the risk factors of carotid plaques, which are reliable surrogates of coronary atherosclerosis, in men and women with FH.

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Background: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder with a frequency of 1 in 200 to 500 in most European populations. Mutations in LDLR, APOB and PCSK9 genes are known to cause FH. In this study, we analyzed the genetic spectrum of the disease in the understudied Polish population.

Carotid Plaques Correlates in Patients With Familial Hypercholesterolemia.

Patients with familial hypercholesterolemia (FH) are at increased risk of premature cardiovascular disease. We compared factors associated with the presence of carotid plaques and carotid intima-media thickness (cIMT), markers of subclinical atherosclerosis, in 241 patients with FH (98, 40.7% men; mean age 41 ± 18.

Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.

Background: Familial hypercholesterolemia (FH) is an autosomal-dominant disorder caused by mutations in 1 of 3 genes. In the 60% of patients who are mutation negative, we have recently shown that the clinical phenotype can be associated with an accumulation of common small-effect LDL cholesterol (LDL-C)-raising alleles by use of a 12-single nucleotide polymorphism (12-SNP) score. The aims of the study were to improve the selection of SNPs and replicate the results in additional samples.

GTP cyclohydrolase I gene polymorphisms are associated with endothelial dysfunction and oxidative stress in patients with type 2 diabetes mellitus.

Background: The genetic background of atherosclerosis in type 2 diabetes mellitus (T2DM) is complex and poorly understood. Studying genetic components of intermediate phenotypes, such as endothelial dysfunction and oxidative stress, may aid in identifying novel genetic components for atherosclerosis in diabetic patients.

Methods: Five polymorphisms forming two haplotype blocks within the GTP cyclohydrolase 1 gene, encoding a rate limiting enzyme in tetrahydrobiopterin synthesis, were studied in the context of flow and nitroglycerin mediated dilation (FMD and NMD), intima-media thickness (IMT), and plasma concentrations of von Willebrand factor (vWF) and malondialdehyde (MDA).

[Determinants of nonalcoholic fatty liver disease in men and women with type 2 diabetes].

Nonalcoholic fatty liver disease (NAFLD) is recognized in 20-30% of general population but among the people with impaired glucose metabolism this percentage is about 70-90%. The aim of this study is to assess the determinants of NAFLD with respect to patients' gender. We examined 180 patients, 73 women and 107 men.

Nonalcoholic fatty liver disease is associated with low HDL cholesterol and coronary angioplasty in patients with type 2 diabetes.

Background: There is evidence that nonalcoholic fatty liver disease (NAFLD) is associated with increased cardiovascular risk. In this study we examined factors associated with the presence of NAFLD and the prevalence of macroangiopathy in patients with type 2 diabetes.

Material And Methods: Subjects were 101 consecutive patients with type 2 diabetes: 72 with NAFLD and 29 free of NAFLD.

Intima-media thickness correlates with features of metabolic syndrome in young people with a clinical diagnosis of familial hypercholesterolaemia.

Background: Familial hypercholesterolaemia (FH) is a monogenic lipid metabolism disorder characterised by markedly elevated serum low-density lipoprotein (LDL) cholesterol level due to a mutation in the LDL receptor gene. Clinical features of FH include premature atherosclerosis and coronary artery disease.

Aim: To explore associations between noninvasive markers of atherosclerosis including intima-media thickness (IMT) and pulse wave velocity (PWV) and blood lipids, blood pressure (BP) and obesity in a group of young patients with FH.

A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.

The purpose of this investigation was to characterize a new mutation in the LDL-receptor (LDLR) gene in three families with clinically diagnosed familial hypercholesterolemia (FH) from the South-Eastern part of Poland. Mutational screening with exon by exon sequencing analysis was performed in all probands. The novel mutation c986G>T (Cys308Phe) in the exon 7 of LDLR gene was found in three apparently unrelated probands with FH.

Corticosteroid treatment of kidney disease in a patient with familial lecithin-cholesterol acyltransferase deficiency.

Familial lecithin-cholesterol acyltransferase (LCAT) deficiency (FLD) is a rare genetic disorder of lipid metabolism, characterised by low plasma HDL cholesterol, proteinuria, haemolytic anaemia and corneal opacities. Usually renal disease progresses during the third decade of life to renal failure; however the pathogenesis of renal disease is not well understood. In this study we describe treatment of renal disease in two siblings with FLD.

[Arterial wave velocity and coronary risk factors in patients with type-2 diabetes].

Arterial compliance is a significant prognostic factor of cardiovascular risk. Elevated serum homocysteine level is related to increased oxidative stress and impaired endothelial function. The aim of the study was to evaluate factors influencing arterial compliance in patients with diabetes.