scholarly journals Familial hypercholesterolemia: etiopathogenesis, diagnosis, treatment and state of the problem in Ukraine

2019 ◽  
Vol 26 (4) ◽  
pp. 23-31
Author(s):  
O. I. Mitchenko ◽  
V. Y. Romanov ◽  
N. M. Chulaevska ◽  
K. O. Timokhova

Familial hypercholesterolemia (FH) is one of the most common, inherited autosomal dominant diseases. Most often, FH is caused by dominant mutation of the gene, responsible for the synthesis of low density lipoprotein (LDL) membrane receptors that remove LDL from the blood plasma. As a result, individuals with a mutation of this gene from birth have a significantly increased level of cholesterol LDL in the blood. FH mediates the accelerated development of cardiovascular disease of atherosclerotic genesis, especially coronary heart disease (CHD), so the level of cardiovascular mortality in the population of such patients is extremely high. The article focuses on the fact that the main threat of these lipid disorders is the early and rapid initiation of atherosclerotic lesions of coronary vessels: in patients with heterozygous FH with a total cholesterol level of 8–15 mmol/l, CHD usually manifests up to 55 and 60 years, whereas in homozygous patients with a total cholesterol level of 12–30 mmol/l, CHD manifests at the start of their life and if left untreated, death occurs by the age of 20 years. The major genetic disorders in familial hypercholesterolemia and the frequency of their detection in the population are characterized. There are definitions of clinical screening options for FH: targeted, opportunistic, universal, cascadic. A comprehensive view of the diagnosis of FH according to the Dutch Lipid Clinic Network (DLCN) is provided. The basic principles of non-medication and three-step medication treatment of FH are presented. The article presents a clinical case of the homozygous FH taking into account the peculiarities of the disease course, the results of laboratory and instrumental studies and step-by-step treatment in the department of dyslipidemia of M.D. Strazhesko Institute of Cardiology of NAMS of Ukraine. The epidemiological data of the Ukrainian population survey on the possible prevalence of FH in Ukraine are presented. The preliminary analysis of the Ukrainian registry of patients with FH as a national fragment of the international ScreenProFH Registry and the European Register EAS-FHSC is provided.

Reproduction ◽  
2008 ◽  
Vol 136 (4) ◽  
pp. 491-502 ◽  
Author(s):  
M Ethier-Chiasson ◽  
J-C Forest ◽  
Y Giguère ◽  
A Masse ◽  
C Marseille-Tremblay ◽  
...  

The lectin-like oxidized low-density lipoprotein (LDL) receptor-1 (OLR1) is a newly described receptor for oxidatively modified LDL. The human pregnancy is associated with hyperlipidemia and oxidative stress. It has been reported that modification in maternal lipid profile can induce disturbance during pregnancy. In this study, we have evaluated the expression protein level of OLR1 in human term placenta of women having plasma cholesterol level lower to 7 mM or higher to 8 mM and women of gestational diabetes mellitus (GDM) by western blot analysis. The present study demonstrates that the maternal lipid profile is associated with placental protein expression of OLR1. A significant increase in the protein expression of OLR1 was observed in placenta of women with elevated plasmatic total cholesterol level (>8 mM). In addition, the placental protein expression of OLR1 is increased in mothers having the highest pre-pregnancy body mass index (BMI) and low (<7 mM) plasmatic total cholesterol level at term. Interestingly, the placental protein expression of OLR1 is increased in the presence of GDM pregnancies compared with normal lipids level pregnancies, without the modification of mRNA expression. In conclusion, placental OLR1 protein expression is associated with maternal lipid profile, pre-pregnancy BMI, and pathology of GDM.


2021 ◽  
Vol 15 (1) ◽  
pp. 39-47
Author(s):  
Widiyono Widiyono ◽  
Atik Aryani ◽  
Vitri Dyah Herawati

The effectiveness of Bay leaf (Syzygium polyanthum) to decrease blood total cholesterol level among elderly with HypercholesterolemiaBackground: Total cholesterol levels will gradually increase with age. In the elderly, uncontrolled cholesterol will be a risk factor for life-threatening diseases such as stroke and cardiovascular disease. Observing the adverse effects of hypercholesterolemia, appropriate intervention needed. The treatment of Hypercholesterolemia by using complementary herbal therapy as bay leaves. Bay leaves also contain quercetin, which is a flavonoid that plays a role in strong antioxidants because it can prevent oxidation of LDL (Low Density Lipoprotein). Flavonoids can also prevent fat deposition on the walls of blood vessels.Purpose : To determine the effect of bay leaf (Syzygium polyanthum)  on reducing the cholesterol levels among elderly with Hypercholesterolemia, Method: A quasi-experimental One Group pretest-posttest design without control. The sampling taken by purposive sampling. The number of samples of this study were 29 participants.The cholesterol levels measured using a GCU (Glucose Cholesterol Urid acid), which was calibrated and had good accuracy. The statistical test used is the Paired sample t-test. As for the making of a concoction of bay leaves at each dose of administration by; as much as 10 bay leaves boiled with 400ml of water until the remaining 200ml. 400 ml per day provide in morning and evening and the therapy takes out for 1 full a month and ends with a blood examination evaluation with GCU.Results : The analysis showing that there was a significant difference in the mean cholesterol levels before and after being given the bay leaf stew with a p value of 0.001, which means that there was an effect of the provision of bay leaf boiled water on reducing cholesterol levels.Conclusion: The bay leaf is a complementary herbal therapy that is cheap and can find everywhere in Indonesia also is a non-invasive treatment. This intervention expected as alternative a non-pharmacological therapeutic method in overcoming hypercholesterolemia in the elderly.Keywords: Bay leaf (Syzygium polyanthum); Total cholesterol level; Elderly; HypercholesterolemiaPendahuluan: Kadar kolestrol total akan meningkat secara bertahap seiring bertambahnya usia. Pada lansia, kolesterol yang tidak terkontrol akan menjadi berbagai faktor risiko penyakit yang mengancam jiwa seperti stroke dan penyakit kardiovaskuler. Mencermati dampak buruk dari hiperkolesterolemia maka diperlukan intervensi yang tepat. Mengatasi hiperkolesterolemia dapat dilakukan dengan pengunaan terapi komplementer herbal berupa pemberian air rebusan daun salam. Daun salam juga mengandung quercetin, yaitu Flavonoid yang berperan dalam antioksidan kuat karena mampu mencegah oksidasi LDL (Low Density Lipoprotein). Flavonoid juga dapat mencegah pengendapan lemak pada dinding pembuluh darah.Tujuan : Mengetahui pengaruh pemberian air rebusan dalam salam terhadap penurunan kadar kolesterol lanisa yang mengalami Hipercholesterolemia.Metode : Penelitian  quasy eksperimental dan menggunakan rancangan One Group pretest-posttest design without Control. Teknik pengambilan sampel dilakukan dengan secara purposive sampling. Jumlah sampel penelitiannya 29 partisipan. Kadar kolesterol pada partisipan diukur dengan menggunakan alat cek kolesterol GCU (Glukosa Colesterol Urid acid) yang sudah dikalibrasi dan memiliki akurasi yang baik. Uji statistic yang digunakan yakni uji Paired sample t-test. Adapun pembuatan ramuan daun salam pada setiap dosis pemberian dengan cara; rebus sebanyak 10 lembar daun salam dengan 400ml air hingga tersisa 200ml.400 ml per hari berikan pagi dan sore dan terapi berlangsung selama 1 bulan penuh dan diakhiri dengan evaluasi pemeriksaan darah dengan GCU.Hasil : Menunjukan bahwa ada perbedaan rerata kadar kolesterol yang bermakna sebelum dan sesudah diberikan rebusan daun salam dengan nilai p value 0,001 yang berarti ada pengaruh pemberian air rebusan daun salam terhadap penurunan kadar kolesterol.Simpulan: Pemberian rebusan air daun salam merupakan terapi komplementer herbal yang murah, mudah, dapat dilakukan dimanapun dan kapanpun dan merupakan tindakan non-invasif. Intervensi ini diharapkan dapat dimanfaatkan sebagai metode terapi non farmakalogi dalam mengatasi hiperkolesterolemia pada lansia.


2016 ◽  
Vol 7 (2) ◽  
pp. 142-147
Author(s):  
Barsha Suwal ◽  
Jeevan Kumar Shrestha ◽  
Sagun Narayan Joshi ◽  
Ananda Kumar Sharma

Introduction: Diabetic retinopathy is the commonest micro vascular complication in patients with diabetes and remains a leading cause of blindness in people of working age group. Objective: to determine the prevalence of clinically significant macular edema (CSME) and the influence of systemic risk factors Materials and methods: It is a hospital based comparative study conducted in 220 eyes of 110 diabetic patients. DR was graded according to International Clinical Diabetic Retinopathy Severity Scale and CSME was defined according to Early Treatment Diabetic Retinopathy Study (ETDRS) system. The patients were grouped as 1) CSME group (DR and CSME in one or both eyes) and 2) Non- CSME group(CSME in none of the eyes but with any grade of DR).Level of glycosylated hemoglobin (HbA1C), serum total cholesterol, triglyceride (TG), low density lipoprotein (LDL), high density lipoprotein (HDL) and urine for albumin were studied in both groups. Results: CSME was present in 36% of 110 patients. Poor glycemic control and high total cholesterol level showed positive association with CSME (p<0.05). LDL and TG levels were higher and HDL lower in CSME group. However, no statistical significance was found. Conclusion: The CSME is significantly associated with poorer glycemic control and elevated total cholesterol level.


2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Seongil Kang ◽  
Sangyeol Song ◽  
Joosang Lee ◽  
Hyekyung Chang ◽  
Sanghun Lee

Objectives. Several experimental studies have reported antiobesity and lipid-improving effects of Citrus unshiu. However, clinical studies on its effects are lacking. This study was designed to evaluate the impact of Citrus unshiu peel pellet (CUPP) on obesity and lipid profile. Methods. For 118 patients with body mass index (BMI) > 23 who took Citrus unshiu peel pellet (CUPP) for 4 weeks in a Public Health Center, laboratory and biometric readings before and after CUPP administration were analyzed. Results. Mean age of these subjects was 53.8±10.6 years (range: 18-75 years). There were 88 (74.6%) females in the study sample (n = 118). A significant (p < 0.01) decrease in BMI from 27.47±2.24 to 27.27±2.22 was observed in all subjects after CUPP treatment and 65.3% (N = 77) of them lost 1.03±0.83 kg of weight after 4 weeks of treatment. Total cholesterol level was significantly (p < 0.01) decreased from 204.0±37.4 mg/dL to 193.5±36.5 mg/dL. Significant (p < 0.05) decreases in levels of low-density lipoprotein, cholesterol, and triglyceride were also observed. Conclusions. These results suggest that CUPP in practice could help weight control and improve total cholesterol level. Findings of this study provide clinical foundation for future large-scale trials to establish clinical benefits of CUPP.


2016 ◽  
Vol 36 (suppl_1) ◽  
Author(s):  
Chan Joo Lee ◽  
Jaewon Oh ◽  
Jung Sun Kim ◽  
Sang-Hak Lee

Background: In many cases of familial hypercholesterolemia (FH), there remains difficulty in achievement of treatment target. However, despite growing attention to FH, data on the treatment and its results in these patients are very limited. Methods: From nine sites in Korea, 122 consecutive unrelated men and women who were diagnosed with heterozygous FH by Simon Broome criteria were initially enrolled. Atorvastatin 20 mg or similar-potency drugs were prescribed and the dose was escalated every 2 months (for the first 6 months) or 6 months (thereafter) if needed. Forty one subjects were dropped and 81 subjects who underwent regular laboratory check-up were finally analyzed. The primary evaluation points were achievement rates of low-density lipoprotein cholesterol (LDL-C) <70 mg/dL, LDL-C<100 mg/dL, and LDL-C down to 50% of baseline levels at 12 month. The secondary evaluation point was % change of LDL-C at 12 month. Results: Patients’ mean age was 53 years and 59.3% were males. 21.0% were definite type FH and 28.4% had coronary artery disease (CAD). The mean total cholesterol and LDL-C were 319 mg/dL and 232 mg/dL, respectively. At 12 month, 7.4% received atorvastatin 10mg or similar, 21.0% received atorvastatin 20mg or similar, 16.0% received atorvastatin 40mg or similar, 4.9% received atorvastatin 80mg or similar, and 49.4% received atorvastatin (mean 57 mg) or similar plus ezetimibe 10mg. The mean follow-up total cholesterol and LDL-C were 201 mg/dL and 124 mg/dL, respectively. The mean % change of LDL-C was -45.6%. The achievement rates of LDL-C<70 mg/dL, <100 mg/dL, and LDL-C down to 50% of baseline were 1%, 21%, and 44%, respectively. The achievement rates were not significantly different between the patients without or with CAD (1.8%, 26.3%, 47.4% vs. 0%, 8.7%, 34.8%, respectively, all p values > 0.05). Conclusions: The achievement rate of treatment target in FH was low in Korea even after maximum tolerable dose of lipid lowering drugs. Improvement of awareness on this issue and more aggressive treatment are needed for this population.


2019 ◽  
Author(s):  
Peter A Mcpherson

AbstractHypercholesterolemia is characterized by serum cholesterol levels greater than 5 mmol per L. However, the distribution of cholesterol among lipoprotein classes has a significant bearing on diagnosis: high–low-density lipoprotein (LDL) cholesterol suggests familial hypercholesterolemia, whereas high–high-density lipoprotein (HDL) cholesterol is associated with hyperalphalipoproteinemia. On routine screening, a 23-year-old man presented with a total cholesterol level of 7.6 mmol per L but was subsequently found to have an HDL cholesterol level of 5.6 mmol per L. The clinical picture was confounded by his use of red yeast rice extract, a popular health supplement with hypolipidemic effects. In this case individual, the use of red yeast rice extract caused a hyperlipidemic state, ostensibly through downregulation of cholesteryl ester transfer protein. This case emphasizes the extended role of laboratory medicine in complex cases of hyperlipidemia.


2020 ◽  
Vol 30 (11) ◽  
pp. 1643-1648
Author(s):  
Nafiye E. Çakar ◽  
Ahmet İrdem

AbstractBackground:Familial hypercholesterolemia is a genetic disease with plasma total cholesterol especially low-density lipoprotein-cholesterol elevation. In this study, we aimed to examine the changes in the electrocardiographies of children with familial hypercholesterolemia.Materials and methods:Electrocardiography of 85 patients with a diagnosis of familial hypercholesterolemia, followed up from the Pediatric Metabolism and Pediatric Cardiology outpatient clinic was examined. Electrocardiography of 83 children from the control group who did not have hypercholesterolemia in a similar gender and age range were examined. Heart rate, P wave, PR interval, P wave dispersion, QRS wave, QT interval, corrected QT (calculated with Bazett formula), Tpeak-end interval, QT dispersion, corrected QT dispersion, JT interval, corrected JT (calculated with Bazett formula) were statistically compared.Results:P wave, PR interval, and P wave dispersion values were significantly higher (p < 0.05) in the children with familial hypercholesterolemia. Corrected QT, QT dispersion, corrected QT dispersion, JT interval, corrected JT, Tpeak-end interval were significantly higher than the control group (p < 0.05) in children with familial hypercholesterolemia. These statistical differences in electrocardiography parameters support the risk of atrial and/or ventricular arrhythmia in children with familial hypercholesterolemia.Conclusion:We found that high total cholesterol and low-density lipoprotein-cholesterol variables are associated with an increased risk of cardiac atrial and/or ventricular arrhythmia. The findings suggest that total cholesterol and low-density lipoprotein-cholesterol variability can be used as a new marker for the risk of cardiac arrhythmia. In this case, decreasing total cholesterol and low-density lipoprotein-cholesterol variability below certain thresholds may decrease the risk of cardiac arrhythmia.


2013 ◽  
Vol 91 (5) ◽  
pp. 315-318 ◽  
Author(s):  
Edyta Pytel ◽  
Małgorzata Olszewska-Banaszczyk ◽  
Maria Koter-Michalak ◽  
Marlena Broncel

One of many risk factors for cardiovascular disease appears to be oxidative stress. To estimate possible changes in redox balance, membrane fluidity, and cholesterol level in erythrocytes was collected erythrocytes from patients diagnosed with coronary artery disease (CAD). The study included 20 patients with previous myocardial infarction occurring more than 6 months prior to the time of screening with low-density lipoprotein cholesterol (LDL-C) >70 mg/dL and 21 healthy controls. The following parameters were studied: catalase, glutathione peroxidase (GPx), superoxide dismutase (SOD), thiobarbituric acid reactive substrates (TBARS), sulfhydryl (SH) groups in membrane protein, total cholesterol level, and erythrocyte membrane fluidity. Our study showed an increase in the level of lipid peroxidation (13%) and total cholesterol (19%), and a decrease in membrane fluidity (14%) in the subsurface layers and in the deeper layers of erythrocyte membrane (7%) isolated from patients with CAD in comparison to healthy controls. A significant decrease in catalase (10%) and SOD (17%) activities were also observed. No changes in GPx activity or the level of SH groups were observed. Our study indicates that there are disorders in the antioxidant system as well as changes in the membrane structure of erythrocytes obtained from CAD patients.


PEDIATRICS ◽  
1992 ◽  
Vol 89 (3) ◽  
pp. 502-505 ◽  
Author(s):  
Thomas Arneson ◽  
Russell Luepker ◽  
Phyllis Pirie ◽  
Alan Sinaiko

A telephone survey of the 197 board-certified pediatricians actively engaged in primary care in the Minneapolis-St Paul metropolitan area was conducted to assess their cholesterol screening practices and hypercholesterolemia management. The response rate was 95%. Nearly all the pediatricians (90%) do some cholesterol screening, with the majority (58%) screening only children with a strong family history of coronary heart disease. Though only 33% screen all their patients, 66% advocate universal pediatric screening. Most of the pediatricians indicated they would manage hypercholesterolemia patients themselves, nearly always with dietary means. Despite their strong support for screening, the pediatricians expressed skepticism about the significance of childhood cholesterol level as a predictor of adult cardiovascular disease and doubted their effectiveness in getting patients to adopt a cholesterol-reducing diet. Their definition of elevated total cholesterol level in childhood was consistent with published recommendations, but only 29% could define elevated low-density lipoprotein cholesterol level. The pediatricians expressed strong opposition to pediatric cholesterol screening in schools or in any setting other than clinics and hospitals.


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