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1.
J Clin Med ; 12(17)2023 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-37685656

RESUMO

We aimed to compare the extent of subclinical atherosclerosis in the ascending and descending aortas by measuring wall area and thickness using 3D cardiovascular magnetic resonance imaging (aAWAI and dAWAI) in patients with asymptomatic familial hypercholesterolemia (FH) and nonfamilial hypercholesterolemia (NFH). We also aimed to establish the interrelations of CMR parameters with other subclinical atherosclerosis measurements, such as calcium scores, obtained using computed tomography in coronary arteries (CCS) and ascending and descending aorta (TCSasc and TCSdsc), as well as the carotid intima-media thicknesses (cIMT) using ultrasonography. A total of 60 patients with FH (29 men and 31 women), with a mean age of 52.3 ± 9.6 years, were analyzed. A subclinical atherosclerosis assessment was also performed on a group consisting of 30 age- and gender-matched patients with NFH, with a mean age of 52.5 ± 7.9 years. We found the ascending and descending aortic wall areas and thicknesses in the FH group to be significantly increased than those of the NFH group. A multivariate logistic regression analysis showed that a positive FH mutation value was a strong predictor of high aAWAI and dAWAI independent of the LDL cholesterol level. Correlations across CMR atherosclerotic parameters, calcium scores, and cIMT in the FH and NFH groups, were significant but low. Most of the atherosclerosis tests with high results belonged to the FH group. We found that patients with documented heterozygous FH had a higher atherosclerosis burden in the aorta compared to patients with severe hypercholesterolemia without FH gene mutation. Atherosclerosis is not severe in asymptomatic patients with FH, but is more pronounced and also more diffuse than in patients with NFH. The etiology of hypercholesterolemia, and not just cholesterol levels, plays a significant role in determining the degree of subclinical atherosclerosis.

2.
Cardiol J ; 29(1): 62-71, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35146730

RESUMO

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. tolerated statin dose and ezetimib). The efficacy of PCSK9 inhibitors in reducing LDL-C with drug administration every 2 weeks was assessed after 3 months and 1 year of therapy. A safety profile evaluation was performed at each visit. 48 patients completed the 3-month and 21 for the 1-year observation periods (34 patients treated with alirokumab and 14 with evolocumab). RESULTS: The mean concentration of direct-measured LDL-C decreased from the initial level of 215.1 ± 74.5 mg/dL to 75.3 ± 64.1 mg/dL, i.e., by 65 ± 14% following 3 months of treatment. This effect was stable in 1-year observation (77.7 ± 72.8 mg/dL). Adverse effects were flu-like symptoms (13.0%), injection site reactions (11.1%), fatigue (5.6%) and musculoskeletal symptoms (5.6%). Seven patients failed to complete the 3-month treatment period due to side effects or non-compliance, and 1 patient failed to complete the 1-year treatment due to myalgia. CONCLUSIONS: This study confirmed high effectiveness of PCSK9 inhibitors in reducing LDL-C levels in patients with FH. Due to restrictive inclusion criteria with LDL-C threshold level > 160 mg/dL (> 4.1 mmol/L) required for participation in the therapeutic program, a relatively small number of FH patients were eligible for treatment.


Assuntos
Hiperlipoproteinemia Tipo II , Pró-Proteína Convertase 9 , Adulto , Anticorpos Monoclonais/efeitos adversos , LDL-Colesterol , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/tratamento farmacológico , Inibidores de PCSK9 , Polônia , Resultado do Tratamento
4.
Cardiol J ; 28(2): 271-278, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32207844

RESUMO

BACKGROUND: The carotid intima-media thickness (IMT) measurement may be carried out proximally (pIMT) or distally (dIMT) in relation to the bulb of the common carotid artery which has significant implications on the results and correlation with risk factors. The aim of the study was to compare the pIMT and dIMT in patients with familial hypercholesterolemia confirmed by genetic testing (FH group) and patients with severe non-familial hypercholesterolemia, with negative results of genetic testing (NFH group) and to determine the correlation of results with traditional atherosclerotic risk factors and calcium scores. METHODS: A total of 86 FH and 50 NFH patients underwent pIMT and dIMT measurements of both carotid arteries as well as computed tomography (CT) with coronary and thoracic aorta calcium scoring. RESULTS: The meanpIMT of both right and left common carotid artery were significantly higher in patients with FH compared to the NFH group (meanpRIMT 0.721 ± 0.152 vs. 0.644 ± 0.156, p < 0.01, meanpLIMT 0.758 ± 0.173 vs. 0.670 ± 0.110, p < 0.01). Patient age, pre-treatment lowdensity lipoprotein (LDL) cholesterol levels (LDLmax) at baseline and systolic blood pressure were independent predictors of pIMT increases in both carotid arteries. Smoking history, age and LDLmax were independent predictors of dIMT increase. There was a significant correlation between the calcium scores of the ascending aorta, coronary artery and aortic valve and all IMT parameters. CONCLUSIONS: The IMT measured proximally better between patients with familial and non-familial hypercholesterolemia. The association between IMT and traditional cardiovascular risk factors varies between measurement sites. IMT values correlate CT calcium scores in all patients with hypercholesterolaemia regardless of genetic etiology.


Assuntos
Cálcio , Doenças Cardiovasculares , Hiperlipoproteinemia Tipo II , Espessura Intima-Media Carotídea , Fatores de Risco de Doenças Cardíacas , Humanos
5.
Artigo em Inglês | MEDLINE | ID: mdl-32722206

RESUMO

It has been raised that marathon running may significantly impair cardiac performance. However, the post-race diastolic function has not been extensively analyzed. We aimed to assess whether the marathon run causes impairment of the cardiac diastole, which ventricle is mostly affected and whether the septal (IVS) function is altered. The study included 34 male amateur runners, in whom echocardiography was performed two weeks before, at the finish line and two weeks after the marathon. Biventricular diastolic function was assessed not only with conventional Doppler indices but also using the heart rate-adjusted isovolumetric relaxation time (IVRTc). After the run, IVRTc elongated dramatically at the right ventricular (RV) free wall, to a lesser extent at the IVS and remained unchanged at the left ventricular lateral wall. The post-run IVRTc_IVS correlated with IVRTc_RV (r = 0.38, p < 0.05), and IVRTc_RV was longer in subjects with IVS hypertrophy (88 vs. 51 ms; p < 0.05). Participants with measurable IVRT_RV at baseline (38% of runners) had longer post-race IVRTc_IVS (102 vs. 83 ms; p < 0.05). Marathon running influenced predominantly the RV diastolic function, and subjects with measurable IVRT_RV at baseline or those with IVS hypertrophy can experience greater post-race diastolic fatigue.


Assuntos
Corrida , Função Ventricular Direita , Diástole , Ecocardiografia , Ventrículos do Coração/diagnóstico por imagem , Humanos , Masculino , Corrida/fisiologia
6.
Kardiol Pol ; 78(1): 45-50, 2020 01 24.
Artigo em Inglês | MEDLINE | ID: mdl-31719512

RESUMO

BACKGROUND: Despite adequate heparinization, formation of fresh intracardiac thrombi during the MitraClip procedure was reported. AIMS: We aimed to evaluate the incidence and clinical consequences of intracardiac thrombus formation during the MitraClip device implantation. METHODS: Clinical data and transesophageal echocardiography findings obtained during MitraClip procedures in 100 consecutive patients (81 men; mean [SD] age, 67.8 [8.3] years) were reviewed. In all patients, a heparin bolus was given immediately after a successful transseptal puncture, and the activated clotting time above 250 seconds was maintained throughout the procedure. RESULTS: Thrombus formation was documented in 9 patients (9%). In 6 patients, thrombi formed on a transseptal needle/sheath (2 attached to the sheath in the right atrium and 4 on the sheath immediately after the puncture in the left atrium), and in 3 patients, on the MitraClip device in the left atrium (2 on a steerable guiding catheter and 1 on the clip delivery system). Overall, 6 thrombi (67%) formed prior to and 3 (33%) after heparin administration. All thrombi were transient and disappeared within minutes. No periprocedural ischemic stroke, transient ischemic attack, or other embolic complications were reported. Clinical characteristics were similar in patients with and without thrombi, except for lower left ventricular ejection fraction (LVEF; mean [SD], 23% [10%] and 30% [10%], respectively; P = 0.03). In-hospital death was reported in 6 patients: 2 with a visible thrombus and 4 without (P = 0.09). CONCLUSIONS: Transient thrombus formation is relatively common during the MitraClip procedure, especially in patients with low LVEF; however, acute clinical consequences are benign.


Assuntos
Trombose , Função Ventricular Esquerda , Idoso , Ecocardiografia Transesofagiana , Mortalidade Hospitalar , Humanos , Incidência , Masculino , Volume Sistólico , Trombose/epidemiologia , Trombose/etiologia , Resultado do Tratamento
8.
Am Heart J ; 218: 32-45, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31706143

RESUMO

BACKGROUND: There is a paucity of data on the distribution of cardiovascular risk factors in patients with familial hypercholesterolemia (FH) as compared to the general population. The aim of the study was to compare cardiovascular risk factors in a cohort of FH patients to the representative sample of adults in Poland who represent a high-cardiovascular risk European region. METHODS: We compared the distribution of risk factors in 1,382 individuals with FH phenotype referred for genetic testing between 2006 and 2014 to the National Centre of Familial Hypercholesterolemia in Gdansk, Poland. The cohort was comprised of 637 positive FH(+) and 745 negative FH(-) patients who were compared to a nationally representative sample of 2,413 adults age 18-79, standardized by age and sex, from the NATPOL 2011 study (NATPOL). We analyzed patients' distribution of history of atherosclerotic cardiovascular disease (ASCVD) and standard risk factors including total cholesterol, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol, triglycerides, systolic and diastolic blood pressure (SBP, DBP), body mass index, smoking, and diabetes. RESULTS: FH(+) patients (mean age 45.6 years) had the highest LDL-C of 241.7 mg/dL (95% CI 234.8-248.5) compared to 206.1 mg/dL (200.5-211.7) in FH(-) patients (mean age 48.2) and 126.2 mg/dL (124.8-127.6) in NATPOL. Mean SBP was the lowest in FH(+) patients at 128.7 mm Hg (126.7-130.7) compared to 133.4 mm Hg (132.6-134.3) in NATPOL and 134.4 mm Hg (132.3-136.5) in FH(-). No differences were found in the prevalence of diabetes and body mass index. Smoking was less common in FH(+) at 12.4% (9.4-15.4) compared to both FH(-) and NATPOL: 20.4% (16.6-24.1) and 28.4% (26.6-30.2), respectively. The prevalence of individuals with a history of ASCVD in both FH(+) and FH(-) was nearly 3-fold higher compared to NATPOL: 26% (21.8-30.1) and 26.6% (22.2-30.9) versus 9.5% (8.3-10.7), respectively. CONCLUSIONS: The FH(+) patients had significantly higher mean LDL-C, but the levels of nonlipid factors were lower or similar compared to the other groups. Both FH(+) and FH(-) were characterized by a heavy burden of ASCVD. This suggests that cholesterol, and no other risk factors, is a key contributor to cardiovascular risk in patients with FH, especially those with genetic mutation.


Assuntos
Hiperlipoproteinemia Tipo II/sangue , Hiperlipoproteinemia Tipo II/genética , Mutação , Adulto , Idoso , Aterosclerose/epidemiologia , Determinação da Pressão Arterial , Índice de Massa Corporal , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Estudos de Coortes , Estudos Transversais , Diabetes Mellitus/epidemiologia , Feminino , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Polônia/epidemiologia , Prevalência , Fatores de Risco , Fumar/epidemiologia , Triglicerídeos/sangue
10.
Cardiol J ; 26(6): 669-679, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30234904

RESUMO

BACKGROUND: Severe familial hypercholesterolemia (FH) individuals, refractory to conventional lipidlowering medications are at exceptionally high risk of cardiovascular events. The established therapeutic option of last choice is lipoprotein apheresis (LA). Herein, it was sought to investigate the clinical usefulness of LA in a highly selected group of severe heterozygous FH (HeFH), as recently described by the International Atherosclerosis Society (IAS), for their efficacy in lipid reduction and safety. METHODS: Efficacy and safety of LA were investigated in 318 sessions of 7 severe HeFH females with cardiovascular disease, over a mean period of 26.9 ± 6.5 months. Relative reduction of low density lipoprotein cholesterol (LDL-C) ≥ 60%, clinical complications and vascular access problems were evaluated and compared between the direct adsorption of lipoproteins (DALI) and lipoprotein filtration (Membrane Filtration Optimized Novel Extracorporeal Treatment [MONET]). Additionally, lipoprotein (a) [Lp(a)], total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), triglycerides (TG) and fibrinogen concentrations were investigated. RESULTS: The relative reduction of LDL-C, TC, TG and Lp(a) were 69.4 ± 12.9%, 59.7 ± 9.1, 51.5 ± ± 14.2% and 71.3 ± 14.4%, respectively. A similar efficacy was found in both systems in LDL-C removal. DALI system led to larger depletions of Lp(a) (80.0 [76-83]% vs. 73.0 [64.7-78.8]%; p < 0.001). The frequency of clinical side effects and vascular access problems were low (8.5%). CONCLUSIONS: Long-term LA in severe HeFH individuals is safe and efficiently reduces LDL-C and Lp(a). Higher efficacy of the DALI system than MONET in Lp(a) removal may indicate the need for individualized application of the LA system in severe HeFH individuals.


Assuntos
Remoção de Componentes Sanguíneos , LDL-Colesterol/sangue , Inibidores de Hidroximetilglutaril-CoA Redutases/administração & dosagem , Hiperlipoproteinemia Tipo II/terapia , Lipoproteína(a)/sangue , Idoso , Biomarcadores/sangue , Remoção de Componentes Sanguíneos/efeitos adversos , HDL-Colesterol/sangue , Resistência a Medicamentos , Feminino , Predisposição Genética para Doença , Heterozigoto , Humanos , Hiperlipoproteinemia Tipo II/sangue , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/genética , Pessoa de Meia-Idade , Polônia , Estudos Prospectivos , Índice de Gravidade de Doença , Fatores de Tempo , Resultado do Tratamento , Triglicerídeos/sangue
11.
PLoS One ; 13(12): e0209229, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30592719

RESUMO

The aim of this study was a comparison of aortic valve calcium score (AVCS) between patients with hypercholesterolemia and genetic diagnosis of familial hypercholesterolemia with low-density lipoprotein receptor gene mutation (LDLR-M group), versus patients with hypercholesterolemia without LDLR gene mutation (LDLR-WT group). A total of 72 LDLR-M patients and 50 LDLR-WT patients were enrolled in the study and underwent CT as a part of an assessment of coronary calcium scoring. AVCS was determined and compared between the two patient groups. AVCS was significantly higher in the LDLR-M group in comparison to the LDLR-WT group (13.8 ± 37.9 vs. 0.94 ± 3.1, p = 0.03). The Yates' chi-squared test for independence revealed that LDLR mutation and AVCS were significantly dependable (Chi^2 = 6.106, p = 0.013). The LDLR mutation was a strong predictor of a high AVCS (OR 7.83, 95% CI 2.08-29.50, p = 0.002) on multivariate regression analysis. Among the traditional risk factors, age (odds ratio 1.12, 95% CI 1.05-1.18, p<0.001) and SBP (OR 1.04, 95% CI 1.00-1.07, p = 0.045) were also significant for high result of AVCS. An assessment of computed tomography calcium scores showed that LDLR-M patients have increased AVCS in comparison to those with LDLR-WT. In addition, LDLR mutation can be considered as an independent risk factor of having high AVSC even after adjustment for risk factors including cholesterol levels. This may result from the associated process connected with the regulatory role of LDLR in evolution of aortic valve calcifications.


Assuntos
Estenose da Valva Aórtica/diagnóstico por imagem , Estenose da Valva Aórtica/genética , Valva Aórtica/patologia , Calcinose/diagnóstico por imagem , Calcinose/genética , Hiperlipoproteinemias/diagnóstico por imagem , Hiperlipoproteinemias/genética , Receptores de LDL/genética , Valva Aórtica/diagnóstico por imagem , Valva Aórtica/fisiopatologia , Estenose da Valva Aórtica/fisiopatologia , Calcinose/fisiopatologia , Feminino , Humanos , Hiperlipoproteinemias/fisiopatologia , Masculino , Pessoa de Meia-Idade , Mutação , Fatores de Risco , Tomografia Computadorizada por Raios X
12.
Echocardiography ; 35(11): 1772-1781, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30255609

RESUMO

BACKGROUND: Hereditary haemochromatosis (HH) is a common inherited disease. Abnormally increased intestinal iron absorption and accelerated recycling of iron by macrophages lead to progressive body iron accumulation and the generation of oxidative stress. In the late stages, iron overload can lead to dysfunction of the left ventricle (LV). It is believed that two-dimensional speckle tracking echocardiography (2D STE) can evaluate LV dysfunction more accurately than conventional echocardiography. This accurate evaluation seems to be clinically important in the early stages of HH before substantial damage of the LV. Evaluation of this assessment was the purpose of this paper. METHODS: We prospectively enrolled 24 patients with early diagnosed HH and without any history of cardiovascular diseases; 23 healthy age- and sex-matched volunteers constituted the control group. Standard echocardiographic parameters and LV rotation and strain parameters were assessed and compared between the groups. RESULTS: All echocardiographic parameters were within normal ranges, and there were no differences between the groups. 2D STE revealed significantly worse basal and apical rotation, twist and torsion values in HH patients. The peak systolic longitudinal strain was decreased in HH patients, even though the LV ejection fraction (LVEF) was normal. There were weak correlations between the iron turnover and 2D STE parameters. CONCLUSIONS: 2D STE seems to be more sensitive than traditional echocardiography for detecting LV abnormalities in HH patients who are diagnosed early. The results of this study may be clinically useful, but their relevance and therapeutic implications remain to be confirmed by further studies.


Assuntos
Ecocardiografia/métodos , Hemocromatose/complicações , Hemocromatose/fisiopatologia , Disfunção Ventricular Esquerda/etiologia , Disfunção Ventricular Esquerda/fisiopatologia , Adulto , Feminino , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
15.
Cardiol J ; 24(1): 57-64, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28070881

RESUMO

BACKGROUND: Complete improvement of left ventricle (LV) systolic function is an essential feature of takotsubo cardiomyopathy (TTC). It is suggested that 2-dimensional speckle tracking echocardiography (2D STE) can evaluate LV dysfunction more accurately than conventional echocardiography. Thus, the purpose of this research was to assertain whether LV function recovery is complete after the acute phase of TTC using 2D STE commencing 6 to 9 months after discharge. METHODS: Thirty patients (29 females, 67 ± 11 years) with an apical ballooning TTC pattern 225.5 ± 27.4 days after their index event were enrolled. The control group consisted of 20 (19 females, 64 ± 9 years) age- and sex-matched volunteers without structural heart disease. Classic echocardiographic parameters, longitudinal strain and LV twist parameters were assessed and compared between the groups. RESULTS: There were no differences in traditional LV systolic, diastolic parameters and in global peak longitudinal strain. In comparison to controls, patients with TTC had lower mean apical rotation (14.4° ± 6.5° vs. 18.3° ± 6.7°; p = 0.048), slower mean peak early diastolic apical rotation rate (-85.1-°/s ± 40.9-°/s vs -119.4-°/s ± 41.9-°/s; p = 0.006) and higher pre-stretch index in the apex (2.16, IQR 0.33-5.50 vs. 0.00, IQR 0.00-2.95, p = 0.008). CONCLUSIONS: The improvement of LV function in patients with TTC as assessed by 2D STE may not always be complete. Some residual abnormalities in LV apex function were observed in long-term recovery following TTC episodes.


Assuntos
Ecocardiografia/métodos , Ventrículos do Coração/diagnóstico por imagem , Recuperação de Função Fisiológica , Cardiomiopatia de Takotsubo/complicações , Disfunção Ventricular Esquerda/etiologia , Função Ventricular Esquerda/fisiologia , Idoso , Eletrocardiografia , Feminino , Seguimentos , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Prognóstico , Cardiomiopatia de Takotsubo/diagnóstico , Cardiomiopatia de Takotsubo/fisiopatologia , Fatores de Tempo , Disfunção Ventricular Esquerda/diagnóstico , Disfunção Ventricular Esquerda/fisiopatologia
18.
BMC Cardiovasc Disord ; 16(1): 110, 2016 05 26.
Artigo em Inglês | MEDLINE | ID: mdl-27387199

RESUMO

BACKGROUND: Pulse wave velocity (PWV) is a biomarker for arterial stiffness, clinically assessed by applanation tonometry (AT). Increased use of phase-contrast cardiac magnetic resonance (CMR) imaging allows for PWV assessment with minor routine protocol additions. The aims were to investigate the acquired temporal resolution needed for accurate and precise measurements of CMR-PWV, and develop a tool for CMR-PWV measurements. METHODS: Computer phantoms were generated for PWV = 2-20 m/s based on human CMR-PWV data. The PWV measurements were performed in 13 healthy young subjects and 13 patients at risk for cardiovascular disease. The CMR-PWV was measured by through-plane phase-contrast CMR in the ascending aorta and at the diaphragm level. Centre-line aortic distance was determined between flow planes. The AT-PWV was assessed within 2 h after CMR. Three observers (CMR experience: 15, 4, and <1 year) determined CMR-PWV. The developed tool was based on the flow-curve foot transit time for PWV quantification. RESULTS: Computer phantoms showed bias 0.27 ± 0.32 m/s for a temporal resolution of at least 30 ms. Intraobserver variability for CMR-PWV were: 0 ± 0.03 m/s (15 years), -0.04 ± 0.33 m/s (4 years), and -0.02 ± 0.30 m/s (<1 year). Interobserver variability for CMR-PWV was below 0.02 ± 0.38 m/s. The AT-PWV overestimated CMR-PWV by 1.1 ± 0.7 m/s in healthy young subjects and 1.6 ± 2.7 m/s in patients. CONCLUSIONS: An acquired temporal resolution of at least 30 ms should be used to obtain accurate and precise thoracic aortic phase-contrast CMR-PWV. A new freely available research tool was used to measure PWV in healthy young subjects and in patients, showing low intra- and interobserver variability also for less experienced CMR observers.


Assuntos
Aorta/fisiopatologia , Determinação da Pressão Arterial/métodos , Doenças Cardiovasculares/diagnóstico , Interpretação de Imagem Assistida por Computador , Imagem Cinética por Ressonância Magnética/métodos , Imagens de Fantasmas , Análise de Onda de Pulso/métodos , Adolescente , Adulto , Idoso , Aorta/diagnóstico por imagem , Velocidade do Fluxo Sanguíneo , Doenças Cardiovasculares/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Curva ROC , Reprodutibilidade dos Testes , Adulto Jovem
19.
Atherosclerosis ; 249: 52-8, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-27062410

RESUMO

BACKGROUND AND AIMS: Familial hypercholesterolemia (FH), which leads to premature cardiovascular events, still remains underrecognized and undertreated in most countries. Untreated FH individuals aged 20-39 years are at 100-fold higher risk of mortality from coronary heart disease compared to those of a general population. Therefore, special efforts should be implemented to diagnose FH patients at early stages of life. The aim of this study was to evaluate the efficacy of the revised Dutch Lipid Clinic Network (DLCN) criteria proposed by the Polish Lipid Experts Forum to select index FH patients for DNA mutational analysis in Poland. METHODS: The study included 193 unrelated adult patients (mean age 48 ± 13 years) with clinical diagnosis of FH based on the revised DLCN score, tested sequentially for mutations in LDLR and APOB genes using bidirectional Sanger sequencing and MLPA techniques. The cut-off points of the clinical FH criteria score were assessed by ROC statistics to identify patients with the highest probability of carrying an FH-causing mutation. RESULTS: The causal heterozygous LDLR or APOB mutation was identified in 41% (80/193) of probands. Adults aged <40 years were more likely to carry an FH-causing mutation compared to subjects aged ≥40 years (65% vs. 33%; p < 0.001). LDL-C thresholds for the molecular diagnosis of FH were 5.79 mmol/l for individuals aged<40 and 6.7 mmol/l for subjects ≥40 years old. The threshold values of the clinical diagnostic score for efficient selection of patients for genetic testing were 5 and 7 points for individuals aged <40 and ≥40 years, respectively. CONCLUSIONS: The study validated the efficacy of proposed clinical FH criteria for the disease diagnosis in Poland. The clinical criteria score thresholds for positive FH molecular diagnosis differ depending on age (<40 and ≥40 years). We propose that in the healthcare systems with limited genetic testing resources individuals younger than 40 years, who fulfill the clinical criteria for possible, probable or definite FH should qualify for the FH mutation testing. The index patients aged ≥40 years with clinical diagnosis of probable or definite FH should also qualify for the genetic testing.


Assuntos
Apolipoproteína B-100/genética , Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/genética , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/genética , Receptores de LDL/genética , Adulto , Fatores Etários , Análise Mutacional de DNA , Feminino , Testes Genéticos , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Polônia , Curva ROC , Adulto Jovem
20.
Cardiol J ; 23(2): 141-8, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26779974

RESUMO

BACKGROUND: The aim of the study was to investigate the effect of a vegan diet on the serum lipid profile with particular regard to the parameters characterizing the high-density lipoprotein (HDL) fractions in subjects without subclinical atherosclerosis, measured by carotid Doppler ultrasonography. METHODS AND RESULTS: Forty-two 23 to 38 year old subjects (21 omnivores and 21 vegans) participated in the study. Compared to the omnivores, the vegan subjects were characterized by lower parameters of lipid profile: total cholesterol (p < 0.001), low-density lipoprotein (LDL)-cholesterol (p < 0.001), non-HDL-cholesterol (p < 0.001), apolipoprotein B (apoB) (p < 0.001) and phospholipids (p < 0.01). Concentration of HDL-cholesterol was apparently similar between groups. Furthermore, the parameters which characterize HDL particles (con-centration of apolipoproteins AI [apoAI] and AII, HDL-phospholipids, LpAI fraction and pre-b1-HDL fraction) were not significantly different between omnivore and vegan subjects. The apoB/apoAI ratio in vegans was lower than in omnivores (p < 0.01). There was no difference between serum concentration of triacylglycerols between omnivores and vegans. The activity of paraoxonase-1 and 8-iso-prostaglandin F2a concentration were also not different between the study groups. CONCLUSIONS: We suggest that a vegan diet may have a beneficial effect on serum lipid profile and cardiovascular protection, but it is not associated with changes in HDL composition.


Assuntos
Aterosclerose/dietoterapia , Dieta Vegana/métodos , Lipídeos/sangue , Adulto , Aterosclerose/sangue , Feminino , Humanos , Lipoproteínas/sangue , Masculino , Fatores de Risco , Adulto Jovem
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