[Opinion of the Czech Atherosclerosis Society's committee (CSAT) on the ESC/EAS guidelines related to the diagnostics and treatment of dyslipidemias issued in 2011]. / Stanovisko výboru CSAT k doporucením ESC/EAS pro diagnostiku a lécbu dyslipidemií z roku 2011.

This position statement of the Executive Committee of the Czech Society for Atherosclerosis (CSAT) summarizes the most important aspects and novelties of the latest European guidelines for the management of dyslipidemia. In particular the position statement comments on: cardiovascular risk stratification, indications for plasma lipid and lipoprotein levels assessment as well as target lipid values, evaluation of current options for both lifestyle and pharmacological treatment of lipid metabolism disorders and, also, recommendation for laboratory monitoring of patients treated with lipid lowering agents. The statement deals with actual concepts of management of dyslipiemia in everyday practice, e.g. therapy of dyslipidemia in special patients´ groups. This statement does not replace the latest guidelines but focuses on the changes from the former guidelines for dyslipidemia management, published by CSAT in 2007.

[Risk of smoking for the cardiovascular diseases starts even before the birth]. / Riziko kourení pro vznik kardiovaskulárních nemocí zacíná uz pred narozením.

Many proofs have confirmed that prenatal exposure to cigarette smoke is the important risk for the development of cardiovascular diseases (CVD) in later life. Such exposure influences on many CVD' determinants: obesity and adiposity, disturbances in glucose and blood lipids metabolism, hypertension, hypokinesis, blood vessel structure and heart reactivity. Expectant mothers have high moral motivation for the changes of their life style. They can substantially protect their babies' healthy development against risk factors if they will know and fully understand them. Our system of prenatal cure offers repeated and essential chance for active participations of physicians and midwifes in teaching both active and passive smoking pregnant women about risks of smoking and in motivation and consulting for smoking cessation.

[Laboratory markers of metabolic syndrome in clinical practice]. / Laboratorní markery metabolického syndromu v praxi.

The incidence of metabolic syndrome is evidenced by the presence of three out of five criteria: larger waistline, elevated blood pressure, raised triglyceride levels, reduced HDL-cholesterol and raised fasting glycaemia (or diabetes mellitus). Laboratory picture of metabolic syndrome also includes presence of small LDL3 particles and increased concentration of apolipoprotein B. Determination of glycaemia and triglycerides and HDL-cholesterol levels is fundamental for the diagnosis of metabolic syndrome. The risk of the so-called ,,pre-analytical" error has to be minimized in order for the results of these investigations to be sufficiently reliable, i.e. the recommendations related to the preparation of the patient, blood sampling itself and the transportation of the sample to a laboratory has to be adhered to. If the laboratory results fall into the borderline (critical) values, it is appropriate to repeat blood sampling.

[Secondary dyslipidaemia after oral contraceptives]. / Sekundární dyslipidemie navozená soucasnými perorálními kontraceptivy.

THE AIM OF THE STUDY: To examine changes to blood lipid and lipoprotein levels following introduction of modern oral hormonal contraception agents and to evaluate atherogenic character of this dyslipidemia. METHODS, PATIENT SAMPLE: Forty four women of the mean age of 22.7 +/- 3.5 years, BMI 21.4 +/- 2.5 kg/sqm, waste line 71.9 +/- 7.1 cm and BP 115.7 +/- 12.2/70.1 +/- 8.3 mm Hg were included. Total cholesterol, HDL-cholesterol, LDL-cholesterol, triglycerides, apolipoprotein A1 and apolipoprotein B levels were assessed before the introduction of contraception and 3 months into the treatment. RESULTS: Following 3 months of treatment, increase in the total cholesterol (4.19 +/- 0.80 vs 4.75 +/- 0.79 mmol/l; p < 0.001), LDL-cholesterol (2.10 +/- 0.64 vs 2.32 +/- 0.66 mmol/l; p = 0.23), HDL-cholesterol (1.71 +/- 0.42 vs 1.90 +/- 0.45 mmol/l; p < 0.001), triglycerides (0.85 +/- 0.36 vs 1.18 +/- 0.50 mmol/l; p < 0.001), apolipoprotein A1 (1.55 +/- 0.33 vs 1.88 +/- 0.44g/l; p < 0.001) and apolipoprotein B (0.58 +/- 0.15 vs 0.69 +/- 0.19 g/l; p < 0.001) levels was observed. The total cholesterol/HDL cholesterol and apolipoprotein B/apolipoprotein A1 ratios have not changed significantly between the two assessments. CONCLUSION: Three-month treatment with combined hormonal contraception resulted in statistically significantly increased concentrations of triglycerides, total cholesterol, HDL-cholesterol, LDL-cholesterol, apolipoprotein A1 and apolipoprotein B. At the same time, total cholesterol/HDL cholesterol and apolipoprotein B/apolipoprotein A1 ratios have not changed significantly and thus hormonal contraception-induced dyslipidemia should not be regarded as proatherogenic.

[Czech atherosclerosis society guidelines for the diagnosis and treatment of dyslipidemia in adults]. / Doporucení pro diagnostiku a lécbu dyslipidémií v dospelosti, vypracované výborem Ceské spolecnosti pro aterosklerózu.

The present guidelines are based on the recommendations published in 2005 entitled "Prevention of Cardiovascular Diseases in Adulthood" summarizing the conclusions of nine Czech medical societies and agree with them in the assessment of individual risk of mortality from cardiovascular disease (CVD) according to SCORE tables. They reflect new research data in pathophysiology of dyslipidemias (DLP) and particularly the results of recent clinical trials of lipid-lowering therapy and their meta-analyses. They establish priorities for the screening and management of DLP, present suitable diagnostic methods, additional investigations of potential use in risk assessment, including some emerging risk factors and detection of sub-clinical atherosclerosis in persons in a moderate-risk category. Major changes include a lower LDL-cholesterol treatment target (< 2.0 mmol/L for all CVD individuals) and a possible use of apolipoprotein B as a secondary target in selected persons (< 0.9 g/L in high risk without CVD, < 0.8 g/L for CVD patients) and nonHDL-cholesterol (< 3.3 mmol/L in high risk without CVD, < 2.8 mmol/L for CVD patients). Therapy of individual DLP phenotypes (monotherapy and combination therapy) as well as basic principles for control examination at lipid-lowering medication are described. Recommended therapeutic lifestyle changes are shown. Enclosed are five annexes: DLP diagnosis; causes of secondary DLP; additional investiga- tions of potential use in risk stratification; familial hypercholesterolemia; list of recommended foods; two variants of SCORE tables for risk assessment for the Czech Republic; the scheme of recommended procedures and treatment algorithm in DLP asymptomatic individuals.

[Secondary dyslipidemias and their treatment]. / Sekundární dyslipidemie a jejich lécba.

Secondary dyslipidemias may develop as a result of other diseases or some major exogenous influences. The most common are secondary dyslipidemias due to the following diseases: poorly controlled diabetes mellitus, hypothyreosis, hyperfunction of suprarenal glands, cholestasis, chronic renal diseases (chronic renal failure, nephrotic syndrome), acute infectious diseases. A very common cause of secondary dyslipidemia is abuse of alcohol. Also some drugs may induce dyslipidemias: corticosteroids, immunosuppressive drugs, less frequently also thiazide diuretics and non-selective beta-blockers. Secondary dyslipidemia is physiologic during pregnancy. If causal treatment of secondary dyslipidemia is possible, hypolipidemic drugs are not indicated. The decision to initiate treatment with hypolipidemic drugs depends on the degree of risk of a fatal cardiovascular event rather than on the blood lipids level. When hypolipidemic treatment is indicated, the choice of the drug and its dose also depends on the type of the primary disease and its severity.

[The impact of statin therapy on bone density changes in postmenopausal women]. / VIiv terapie statiny na zmeny kostní denzity postmenopauzálních zen.

Generalised use of statins in primary and secondary prevention of ischemic heart disease has led in recent years to the discovery ofa number of other "pleiotropic" effects ofstatins. One of them is the effect ofstatins on bone metabolism. The objective of the study was to monitor bone density, bone turnover markers and basic biochemical parameters in a group of postmenopausal women at regular intervals for a period of 2 years. The monitoring allowed for an assessment of the effect of statin therapy on those parameters. Statin therapy safety was also monitored. According to expectations, the group receiving active treatment recorded a decrease in the levels of total cholesterol, as well as LDL-cholesterol, and a mild decrease in the level of triacylglycerols. However, no significant difference in bone density in any of the measured regions (NECK, TROCH, SHAFT) was found when the trends in bone density parameters were compared for the two groups, nor there was a significant change in the respective T-scores. There was no significant difference with respect to the markers of bone formation or the markers of bone resorption between the group with active treatment and the control group. The results correspond to inconsistent data from the performed and quoted retrospective and prospective studies.

[The effect of treatment with fenofibrate on the risk profile of patients with metabolic syndrome and mixed dyslipidemia treated on an outpatient basis]. / VIiv lécby fenofibrátem na rizikový profil nemocných s metabolickým syndromem a smísenou dyslipidemií lécených ambulantne.

The study has shown that patients with metabolic syndrome and typical dyslipidemia treated on an outpatient basis by general practitioners or specialists are those whose anamneses include IHD or diabetes and who are very often indicated for combined statin-fibrate therapy. Fenofibrate therapy combined with a single lifestyle intervention in the form of individual interview resulted in the following improvement of the risk profile of the above patients: significant decrease in body weight and waist circumference, decrease in blood pressure and fasting glycemia; improvement of typical dyslipidemia in 90% of patients, however, only 30% of patients achieved the target TG levels below 1.7 mmol/l and the HDL-cholesterol levels above 1.3 mmol/l and 1 mmol/l in women and men, respectively. A total of 60% of patients no longer met the criteria for MS after 6 months of therapy. However, LDL-cholesterol and total cholesterol levels in patients with IHD or with diabetes were very unsatisfactory; only 6% of patients had achieved the recommended level of target LDL-cholesterol below 2.5 mmol/l before the intervention, i.e. 94% of the patient sample was indicated for statin therapy. 86% of patients with LDL-cholesterol above 2.5 mmol/l remained in our patient sample after non-pharmacological and pharmacological fibrate therapy. The results show that combined statin--fibrate therapy would be the best therapy for patients with IHD or diabetes who meet the MS criteria and whose typical dyslipidemia is expressed.

[Czech Atherosclerosis Society Guidelines for the diagnosis and treatment of dyslipidemias in adults]. / Doporulení pro diagnostiku a lécbu dyslipidemlí v dospelosti, vypracované výborem Ceské spolecnosti pro aterosklerózu.

The present guidelines are based on the recommendations published in 2005 entitled "Prevention of Cardiovascular Diseases in Adulthood" summarizing the conclusions of nine Czech medical societies and agree with them in the assessment of individual risks of mortality from cardiovascular disease (CVD) according to SCORE tables. They reflect new research data in pathophysiology of dyslipidemias (DLP) and particularly the results of recent clinical trials of lipid-lowering therapy and their meta-analyses. They establish priorities for the screening and management of DLP, present suitable diagnostic methods, additional investigations of potential use in risk assessment, including some emerging risk factors and detection of sub-clinical atherosclerosis in persons in a moderate-risk category. Major changes include a lower LDL-cholesterol treatment target (< 2.0 mmol/L for all CVD individuals) and a possible use of apolipoprotein B as a secondary target in selected persons (< 0.9 g/L in high risk without CVD, < 0.8 g/L for CVD patients) and nonHDL-cholesterol (< 3.3 mmol/L in high risk without CVD, < 2.8 mmol/L for CVD patients). Therapy of individual DLP phenotypes (monotherapy and combination therapy) as well as basic principles for control examination at lipid-lowering medication are described. Recommended therapeutic lifestyle changes are shown. Enclosed are five annexes: DLP diagnosis; causes of secondary DLP; additional investigations of potential use in risk stratification; familial hypercholesterolemia; list of recommended foods; two variants of SCORE tables for risk assessment for the Czech Republic; the scheme of recommended procedures and treatment algorithm in DLP asymptomatic individuals.

Familial hypercholesterolemia in the Czech Republic: more than 17 years of systematic screening within the MedPed project.

Familial hypercholesterolemia (FH) is the most common autosomal dominant disorder. It is characterized by a decrease in LDL cholesterol catabolism and an early clinical manifestation of atherosclerotic vessel damage. The aim of the MedPed (Make early diagnosis to Prevent early deaths) project is an early diagnosis of FH patients in order to profit from early treatment and prevent cardiovascular events. Till November 30, 2016 The Czech National MedPed Database has registered 7,001 FH patients from 5,223 different families that is 17.4 % of expected patients in the Czech Republic considering 1:250 FH prevalence. The improvement in diagnostic accuracy, patient cooperation and above all familial cascade screening is enabled by FH mutation detection using the modern technology of next-generation sequencing. FH still remain undiagnosed even though the Czech Republic is one of the most successful countries with respect to FH detection. The opportunities of international collaboration and experience sharing within international programs (e.g. EAS FHSC, ScreenPro FH etc.) will improve the detection of FH patients in the future and enable even more accessible and accurate genetic diagnostics.

[Nuclear receptors PPARalpha]. / Jaderné receptory PPARalpha.

Mechanism of the fibrates action is mediated by nuclear PPARalpha receptors (Peroxisome Proliferator-Activated Receptor). These receptors regulate a number of genes that are involved both in lipids and lipoproteins metabolism and other mediators (e.g. inflammatory mediatores). Due to PPARalpha activation by fibrates, triglycerides and small dense LDL concentration is decreased, HDL cholesterol is increased and both inflammation and prothrombotic status are reduced. These effects are very important in patients with metabolic syndrom.

[The influence of long-term growth hormone replacement therapy on body composition, bone tissue and some metabolic parameters in adults with growth hormone deficiency]. / Vliv dlouhodobe substitucni terapie rustovym hormonem na telesné slození, kostní tkán a nekteré metabolické parametry u dospelých osob s deficitem rustového hormonu.

A syndrome of growth hormone deficiency in adults (GHDA) is a syndrome characterised by metabolic deviations, body composition abnormalities, fatigue, decreased quality of life and some cardiovascular changes. The aim of the study was to assess the influence of the growth hormone (GH) replacement therapy on body composition, bone changes, serum lipids levels and some parameters of sugar metabolism in the course of 7-year monitoring. We followed 34 individuals of mean age of 41.73 +/- 2.49 years (mean +/- SE). Severe deficiency of GH was demonstrated by performing stimulation insulin tolerance test. Duration of treatment was 4.13 +/- 0.36 years (mean +/- SE). Patients were examined before the initiation of replacement therapy, after 6 months and further in yearly visits. To determine a statistical level of significance in individual parameters we compared initial baseline status (before drug administration) with the status in individual time intervals. The body composition was examined by anthropometric methods, bioelectric impedance and by densitometry, bone changes were examined by means of DEXA. There were no statistically significant changes of weight, but the waist circumference significantly decreased (p < 0.05), as well as the sum of skinfold thickness (p < 0.05) within the whole treatment period. The percentage of body fat mass measured by the BIA method was significantly changed after the period of 3 years (p < 0.05). Upon the densitometrical measurement of the body composition a significant decrease in kilograms of body fat mass (FM) occurred in the first year of the treatment (p < 0.05) and an increase in lean body mass (LBM) in kilograms during our complete monitoring (p < 0.05). A statistically significant increase in bone density was found in the whole-body BMD and BMC after the first year of the treatment. In the examination of peripheral bone changes a statistically significant increase in BMD occurred (expressed as a Z score) in the area of proximal femur after the first year and collum femoris after three years (p < 0.05), there was a significant increase in BMD of the lumbar spine already after one year of the treatment (p < 0.05) and changes were significant also in further four years. There were found no statistically significant changes related to the sugar metabolism. In the field of lipid metabolism a decrease of total and LDL cholesterol occurred already after a half of the year of the treatment (p < 0.05), changes were significant also in further four years. HDL cholesterol levels have had a progressive tendency, but they were not statistically significant. Positive changes of body composition, an increase in bone density and a decrease of total and LDL cholesterol were demonstrated in the course of the growth hormone replacement therapy.

Comparison of the efficacy and tolerability of fluvastatin extended-release and immediate-release formulations in the treatment of primary hypercholesterolemia: a randomized trial.

BACKGROUND: A new extended-release (ER) formulation of fluvastatin 80 mg has been developed for once-daily treatment of primary hypercholesterolemia. OBJECTIVE: The purpose of this study was to compare the lipid-lowering efficacy and tolerability of fluvastatin ER (80 mg once daily) versus fluvastatin immediate-release (IR) (40 mg once or twice daily). METHODS: Following a 4-week placebo/dietary run-in period, patients with primary hypercholesterolemia type IIa or IIb (low-density lipoprotein cholesterol ILDL-C] > or = 160 mg/dL and triglycerides [TG] < or = 400 mg/dL) were randomized (2:1:1) to receive fluvastatin ER 80 mg once daily at bedtime (QPM), fluvastatin IR 40 mg QPM, or fluvastatin IR 40 mg BID for 24 weeks. Patients who had homozygous familial hypercholesterolemia; type I, III, IV, V, or secondary hyperlipoproteinemia; diabetes; or evidence of liver or renal impairment were excluded. At weeks 0, 2, 4, 8, 12, 16, 20, and 24 of the active-treatment period, levels of LDL-C, high-density lipoprotein cholesterol (HDL-C), TG, and total cholesterol (TC) were measured. RESULTS: Of the 1183 patients enrolled, 695 were randomly assigned to treatment--346 to fluvastatin ER 80 mg QPM, 174 to fluvastatin IR 40 mg QPM, and 175 to fluvastatin IR 40 mg BID. Patients were well matched between groups, with a mean age of approximately 56 years and body mass index of 27 kg/m2; 56.0% of patients (389/695) were female and 97.7% (679/695) were white. Fluvastatin ER 80 mg QPM lowered LDL-C levels significantly more than did fluvastatin IR 40 mg QPM (33.7% vs 24.4%; P < 0.001) and as effectively as fluvastatin IR 40 mg BID (33.9%). More than half of the patients administered fluvastatin ER 80 mg QPM and IR 40 mg BID achieved reductions in LDL-C levels of > or = 35%; more than half of those administered fluvastatin IR 40 mg QPM experienced reductions in LDL-C levels of > or = 25%. The mean reductions in LDL:HDL ratio, TC, and apolipoprotein B levels in the fluvastatin ER 80 mg QPM group were significantly greater than the reductions in the IR 40 mg QPM group (P < 0.001). In patients with mixed dyslipidemia, fluvastatin ER 80 mg reduced triglycerides by 21.8% (median 28%) and increased HDL-C by 14.5%. Fluvastatin ER 80 mg QPM was well tolerated, with incidences of clinically notable elevations in alanine aminotransferase, aspartate aminotransferase, and creatine kinase levels and musculoskeletal adverse events comparable to those in the IR 40 mg QPM group. CONCLUSION: The ER 80-mg formulation of fluvastatin is effective and well tolerated as a once-daily starting and maintenance treatment for primary hypercholesterolemia.

Phagocyte-induced oxidative stress in patients with haemodialysis treatment and organ transplantation.

The aim of the study was to examine the phagocyte-derived production of reactive oxygen species (ROS), lipoperoxidation and the total radical-trapping antioxidant parameter (TRAP) in patients undergoing regular haemodialysis (HD) followed by kidney transplantation (n = 13). A significant increase in both spontaneous and activated ROS generation was found during the post-transplantation period in days 1-3. This effect was caused mainly by an increased number of neutrophils. On the other hand, the TRAP parameter was decreased in HD patients. After kidney transplantation, the TRAP parameter increased, reaching the level of healthy controls at the end of the first week after surgery. Increase in MDA level was determined after HD and kidney transplantation. It can be concluded from the results obtained that phagocyte mobilisation and increased oxidative stress after HD and kidney transplantation were associated with the insufficient activity of extracellular antioxidant mechanisms resulting in increased lipid peroxidation.

Influence of polysulfone and hemophan hemodialysis membranes on phagocytes.

The aim of the study was to compare the effect of hemophane and polysulfone membranes on the phagocyte-derived production of reactive oxygen species (ROS) as well as on neutrophil CD11b and CD62L expression in patients undergoing regular hemodialysis. The effects of hemodialysis membranes were also studied in in vitro conditions after coincubating them with differentiated HL-60 cells. ROS production was measured using chemiluminometric and flow cytometric methods. Expression of CD11b, CD62L and mitochondrial membrane potential were detected by monoclonal antibodies and by the JC-1 fluorescent probe, respectively. Depressed ROS production was observed in patients already before dialysis. Further decrease in ROS production and an increase in CD11b expression were observed especially in patients after hemophan hemodialysis. Decreased ROS production and increased CD11b expression were observed also after incubation of HL-60 cells with hemophan membranes. Mitochondrial membrane potential dropped only after incubating cells with hemophan membranes proving its more serious adverse effects in comparison with the polysulfone membrane. In conclusion, deleterious effects of hemodialysis on the metabolic activity of phagocytes were proved. Combining chemiluminescent and flow cytometric methods for the detection of ROS production and determining mitochondrial membrane potential can be useful tools for the analysis of material biocompatibility.

[The program for detection and treatment of patients with familial hypercholesterolemia (MedPed FH) in the Czech Republic]. / Program vyhledávání a lécby nemocných s familiární hypercholesterolémií (MedPed FH) v Ceské Republice.

The authors present an international MedPed project (Make early diagnoses to prevent early deaths in medical pedigrees) the task of which is to increase the number of patients with familial lipid disorders identified and adequately treated all over the world. This will lead to significant decrease of premature deaths from coronary artery disease. Primary effort has been focused on familial hypercholesterolemia. The realization of MedPed program in Czech Republic is described.

[Free oxygen radicals in patients with hypertension]. / Volné kyslíkové radikály u nemocných s hypertenzí.

The objective of the investigation was to test the impact of hypertension on the formation of free oxygen radicals which participate in the development of atherosclerosis. Using the method of luminol-dependent chemiluminescence, the authors assessed the spontaneous and stimulated production of free oxygen radicals in phagocytic cells of complete blood in a group of healthy subjects, in not treated essential hypertension (EH), essential hypertension treated with metipranolol (Trimepranol Spofa) and EH treated with diltiazem (Blokalcin Lachema). A statistically significant increase of spontaneous and activated production of free oxygen radicals was found in the group of EH treated with diltiazem. Differences between the group of healthy subjects, untreated EH and hypertension treated with metipranolol were not statistically significant.

[Screening for mutations in apolipoprotein B genes in a group of patients with hyperlipoproteinemia]. / Screening mutací v genu pro apolipoprotein B v souboru pacientu s hyperlipoproteinémií.

BACKGROUND: Familial defective apolipoprotein (apo) B-100 (FDB) is a common inherited metabolic disorder. Reduced binding of the apo B-100, the major protein of LDL particles, to LDL receptor results in marked hypercholesterolemia. FDB is caused particularly by an arginine to glutamine substitution at the codon for amino acid 3500 of the apo B-100. The aim of this study was to determine mutations potentially responsible for hypercholesterolemia in the apo B gene and to estimate their frequency in the group of Czech hyperlipidemic patients. METHODS AND RESULTS: The groups of 169 unrelated patients with primary isolated hypercholesterolemia (total cholesterol > or = 6.5 mmol/l, triglycerides < or = 2.3 mmol/l) and 58 unrelated patients with combined hyperlipoproteinemia (total cholesterol > or = 6.5 mmol/l, triglycerides > 2.3 mmol/l) were screened for mutations in codon 3500 region of the apolipoprotein B gene by denaturing gradient gel electrophoresis. Mutation R3500Q was detected in 20 patients with isolated hypercholesterolemia (11.8%) and in 2 patients with combined hyperlipoproteinemia (3.4%). No other mutations were found. CONCLUSION: The frequency of FDB in our group of patients with primary isolated hypercholesterolemia is high when compared with data published in other countries. We suggest that all patients with primary isolated hypercholesterolemia (total cholesterol > or = 6.5 mmol/l) in the Czech Republic should be analysed for the presence of mutation R3500Q in the apo B gene.

[Direct detection of mutations in the LDL receptor gene in patients with familial hypercholesterolemia]. / Prímá detekce mutací v genu pro LDL receptor u pacientu s familiární hypercholesterolémií.

BACKGROUND: Familial hypercholesterolemia is one of the most frequent hereditary metabolic diseases. As a result of the functional disorder of the molecule of the LDL receptor LDL cholesterol is not sufficiently eliminated from the blood stream and exerts an atherogenic effect. The objective of the study was to introduce direct detection of mutations in the gene for the LDL receptor and characterize the spectrum of mutations in the Czech population. METHODS AND RESULTS: The authors analyzed a group of 84 unrelated patients where on the basis of clinical and biochemical criteria the diagnosis of FH was established. From the group 12 patients were eliminated (14.3%) where a mutation 3500 in the gene for apolipoprotein (apo) B-100 was detected. This mutation is most frequently the cause of a familial defect of apo B-100 (FDB), which cannot be differentiated clinically or biochemically from FH. In the LDL receptor gene a total of 11 mutations were found in 14 unrelated patients (16.7%), incl. 7 mutations not described hitherto. CONCLUSIONS: This is the first systematic characteristic of the spectrum of mutations in the LDL receptor gene in the Czech population. Molecular genetic analysis of the gene for the LDL receptor in affected families can contribute towards early assessment of the diagnosis of FH and thus to prevention of life threatening cardiovascular episodes in asymptomatic subjects.

[Familial hypercholesterolemia: do we know how to diagnose it correctly?]. / Familiární hypercholesterolémie: dovedeme ji správne diagnostikovat?

Familial hypercholesterolaemia is a serious inborn disease of lipoprotein metabolism with a high risk of early cardiovascular complications. The cause of the disease is a congenital defect of LDL receptors. In adults with familial hypercholesterolaemia practically always pharmacotherapy with hypolipaemic agents is indicated. The prerequisite for starting lifelong medication in primary prevention of ischaemic heart disease is a correct diagnosis of this disease. The latter involves in addition to clinical and genealogical examinations, above all correct interpretation of blood lipids in relation to age and the relationship of probands in the affected family. At present the diagnostic process is improved greatly by DNA analysis. The author mentions also exact clinical and laboratory criteria for classification of patients with familial hypercholesterolaemia into groups.