scholarly journals Clinical Characteristics, Laboratory Profiles, And Treatment Modalities for Familial Hypercholesterolemia in Egypt

2021 ◽  
Vol 23 (Supplement_D) ◽  
Author(s):  
Ashraf Reda ◽  
Ahmed Bendary ◽  
Ahmed Shawky Elserafy ◽  
Mohamed Ashraf ◽  
Ehab Dawood ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Urban Areas ◽  
Research Collaboration ◽  
Clinical Laboratory ◽  
Lipid Lowering ◽  
Treatment Modalities ◽  
Case Report Form ◽  
Lipid Lowering Therapy ◽  
Data Matching ◽  
The Mean

Abstract Aims The aim of the Familial Hypercholesterolemia Research Collaboration (FHRC) is to collect date about the clinical, laboratory phenotypes, and treatment strategies of patients with FH all over the world. We present the Egyptian data of this international registry. Methods and Results An online electronic case report form (e-CRF) was prepared to collect data matching the protocol of the FHSC of the European Atherosclerosis Soci- ety (EAS). From August 2017 to March 2021, a total of 228 cases with FH (46% males, mean age 48 ± 14 years) were enrolled. About 71% of whom came from urban areas. The mean Body Mass Index (BMI) was 30 ± 4.9 kg/m2. The most commonly reported concomitant risk factor was hypertension (39%), followed by smoking (22%), and then DM (18%). Median time from diagnosis to enrolment was 7 (range 0.5-20) years. The vast majority (99.1%) were diagnosed based on the Dutch Lipid Clinic criteria, with 14%, 11% and 75% in the definite, probable, and possible categories respectively. Genetic test was performed in only 1 patient, in which the defect was heterozygous FH (defective ApoB). Mean baseline levels for total cholesterol was 316±86 mg/dl, median (ranges) for triglycerides was 190 (38-1400) mg/dl, for LDL-C was 237±77 mg/dl and for HDL-C was 47±14 mg/dl. Importantly, the mean Lp(a) was 42±12 mg/dl. All but one patient received lipid lowering therapy. Statins were prescribed in 226 out of 228 patients enrolled (99.1%). Statin prescriptions were equally distributed between Atorvastatin and Rosuvastatin (41% for each). Forty five percent received monotherapy and 56% received combination therapy (most commonly with Ezetimibe [55.7%], then with Fibrates [7.9%], then with proprotein con- vertase subtilisin/kexin type 9 (PCSK-9 inhibitors) [2.6%], and finally with Omega-3 fatty acids [0.9%]). Only one patient received lipoprotein apheresis. Conclusion The Egyptian part of the FHRC, to the best of our knowledge, is the first FH registry in Egypt. Our data show that the e-CRF system is feasible and reliable. The phenotype of enrolled FH cases showed higher female preponderance, very high lipoprotein levels, and unfortunately inadequate therapeutic interventions (with un- derutilization of PCSK-9 inhibitors). This is a call to action in order to mitigate these management gaps for this high-risk group.

Coronary Artery Calcium and Cardiovascular Events in Patients With Familial Hypercholesterolemia Receiving Standard Lipid-Lowering Therapy

2019 ◽  
Vol 12 (9) ◽  
pp. 1797-1804 ◽  
Author(s):  
Marcio H. Miname ◽  
Marcio Sommer Bittencourt ◽  
Sérgio R. Moraes ◽  
Rômulo I.M. Alves ◽  
Pamela R.S. Silva ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Familial Hypercholesterolemia ◽  
Coronary Artery Calcium ◽  
Cardiovascular Events ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Lowering Therapy

scholarly journals FAMILIAL HYPERCHOLESTEROLEMIA: DIAGNOSTIC ISSUES AND THERAPEUTIC POSSIBILITIES

2019 ◽  
Vol 26 (1) ◽  
pp. 175-186
Author(s):  
Vitalii K. Zafiraki ◽  
Alim M. Namitokov ◽  
Elena D. Kosmacheva
Keyword(s):  
Familial Hypercholesterolemia ◽  
Conflict Of Interest ◽  
Screening Program ◽  
Genetic Defect ◽  
Clinical Manifestations ◽  
Density Lipoprotein ◽  
Premature Death ◽  
Lipid Lowering ◽  
Monogenic Disease ◽  
Lipid Lowering Therapy

Familial hypercholesterolemia (FHC) is a common monogenic disease that occurs with a frequency of ~1:250 and is characterised by a high content of low-density lipoprotein (LDL) in the blood. This disease leads to the early development of atherosclerotic cardiovascular diseases (ACVD). Although the screening and diagnostics issues concerned with FHC are well developed and the modern lipid-lowering therapy can significantly improve the prognosis, the detectability of this disease remains extremely low. In recent years, the concept of FHC has undergone significant changes under the influence of large epidemiological studies, including verification of the FHC diagnosis using genetic tests. The article is aimed at discussing the clinical manifestations of FHC, as well as modern medical and extracorporal approaches to its treatment.Conclusion.Until the advent of modern lipid-lowering drugs, FHC had remained to be a disease with a poor prognosis due to early ACVD and the associated premature death. Today, the diseases is amenable to successful treatment, which, though not eliminating the genetic defect, allows almost the same life duration as in the general population to be achieved. However, all the possibilities of modern approaches to the treatment of this serious disease can be realized provided that a state-level screening program for such patients has been implemented.Conflict of interest: the authors declare no conflict of interest.

Abstract 18995: Statins in Familial Hypercholesterolemia - Effects on Coronary Artery Disease and All-cause Mortality

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Joost Besseling ◽  
Gerard K Hovingh ◽  
John J Kastelein ◽  
Barbara A Hutten
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Familial Hypercholesterolemia ◽  
Lipid Lowering ◽  
Premature Coronary Artery Disease ◽  
Lipid Lowering Therapy ◽  
Time Varying ◽  
All Cause Mortality ◽  
Artery Disease

Introduction: Heterozygous familial hypercholesterolemia (heFH) is characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk for premature coronary artery disease (CAD) and death. Reduction of CAD and mortality by statins has not been properly quantified in heFH. The aim of the current study is to determine the effect of statins on CAD and mortality in heFH. Methods: All adult heFH patients identified by the Dutch FH screening program between 1994 and 2014 and registered in the PHARMO Database Network were eligible. Of these patients we obtained hospital, pharmacy (in- and outpatient), and mortality records in the period between 1995 and 2015. The effect of statins (time-varying) on CAD and all-cause mortality was determined using a Cox proportional hazard model, while correcting for the use of other lipid-lowering therapy, thrombocyte aggregation inhibitors, antihypertensive and antidiabetic medication (all time-varying). Furthermore, we used inverse probability for treatment weighting (IPTW) to account for differences between statin-treated and untreated patients regarding history of CAD before follow-up, age at start of follow-up and age of screening, as well as body mass index, LDL-C and triglycerides. Results: Of the 25,479 identified heFH patients, 11,021 gave informed consent to obtain their medical records, of whom 2,447 could be retrieved. We excluded 766 patients younger than 18. The remaining 1,681 heFH patients comprised our study population and these had very similar characteristics as compared to the 23,798 excluded FH patients, e.g. mean (SD) LDL-C levels were 214 (74) vs. 203 (77) mg/dL. Among 1,151 statin users, there were 133 CAD events and 15 deaths during 10,115 statin treated person-years, compared to 17 CAD events and 9 deaths during 4,965 person-years in 530 never statin users (combined rate: 14.6 vs. 5.2, respectively, p<0.001). After applying IPTW to account for indication bias and correcting for use of other medications, the hazard ratio of statin use for CAD and all-cause mortality was 0.61 (0.40 - 0.93). Conclusions: In heFH patients, statins lower the risk for CAD and mortality by 39%.

Abstract 406: Achievement of Treatment Target in Korean Patients With Familial Hypercholesterolemia

2016 ◽  
Vol 36 (suppl_1) ◽  
Author(s):  
Chan Joo Lee ◽  
Jaewon Oh ◽  
Jung Sun Kim ◽  
Sang-Hak Lee
Keyword(s):  
Total Cholesterol ◽  
Familial Hypercholesterolemia ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Lipid Lowering ◽  
Treatment Target ◽  
Evaluation Point ◽  
The Mean ◽  
Artery Disease ◽  
Primary Evaluation

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.

The Effect of Micronized Fenofibrate on Lipid Profiles of Patients Converted from Gemfibrozil

2002 ◽  
Vol 37 (9) ◽  
pp. 953-956 ◽  
Author(s):  
Jim M. Backes ◽  
Patrick M. Moriarty ◽  
Cheryl A. Gibson
Keyword(s):  
Randomized Trial ◽  
Lipid Profile ◽  
Lipid Profiles ◽  
Comparative Data ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Two Agents ◽  
Lowering Therapy ◽  
Micronized Fenofibrate ◽  
The Mean

Although numerous studies have established the efficacy of micronized fenofibrate (MF) and gemfibrozil in improving lipid profiles, there are limited comparative data on the lipid-lowering effects of these two agents. The objective of this study was to evaluate the mean changes in lipid values of hypertriglyceridemic patients crossed over from gemfibrozil to MF. The Medical charts of 21 patients were analyzed retrospectively. Patients were maintained on gemfibrozil 600 mg twice daily for a minimum of 3 months. The patient's last fasting lipid profile on gemfibrozil was compared to the first lipid profile after crossover to MF 200 to 201 mg/day. Patients were excluded if there were alterations in other lipid-lowering therapy during the cross-over or documented non-adherence. The lipid profiles after the crossover showed a significant reduction in triglycerides (56%; P < 0.05) and TC/HDL ratio (38%; P < 0.05) and a significant increase in HDL (22%; P < 0.05). There were nonsignificant changes in other lipid values: TC (-22%; P = 0.058), LDL (+5%; P = 0.866) and LDL/HDL ratio (+6; P = 1.0). The results show that MF had additional favorable effects on triglycerides, HDL, and TC/HDL ratio compared with gemfibrozil. A larger, randomized trial to confirm these effects is warranted.

P938Extensive formation of atherosclerotic cardiovascular disease in subjects with severe familial hypercholesterolemia defined by the international atherosclerosis society criteria

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
S Funabashi ◽  
Y Kataoka ◽  
M Harada-Shiba ◽  
M Hori ◽  
T Doi ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
High Risk ◽  
Familial Hypercholesterolemia ◽  
Peripheral Artery Disease ◽  
Cardiac Death ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Peripheral Artery ◽  
Lowering Therapy ◽  
Artery Disease

Abstract Introduction The International Atherosclerosis Society (IAS) has proposed “severe familial hypercholesterolemia (FH)” as a FH phenotype with the highest cardiovascular risk. Coronary artery disease (CAD) represents a major atherosclerotic change in FH patients. Given their higher LDL-C level and atherogenic clinical features, more extensive formation of atherosclerosis cardiovascular disease including not only CAD but stroke/peripheral artery disease (PAD) may more frequently occur in severe FH. Methods 481 clinically-diagnosed heterozygous FH subjects were analyzed. Severe FH was defined as untreated LDL-C>10.3 mmol/l, LDL-C>8.0 mmol/l+ 1 high-risk feature, LDL-C>4.9 mmol/l + 2 high-risk features or presence of clinical ASCVD according to IAS proposed statement. Cardiac (cardiac death and ACS) and non-cardiac (stroke and peripheral artery disease) events were compared in severe and non-severe FH subjects. Results Severe FH was identified in 50.1% of study subjects. They exhibit increased levels of LDL-C and Lipoprotein (a) with a higher frequency of LDLR mutation. Furthermore, a proportion of %LDL-C reduction>50% was greater in severe FH under more lipid-lowering therapy (Table). However, during the observational period (median=6.3 years), severe FH was associated with a 5.9-fold (95% CI, 2.05–25.2; p=0.004) and 5.8-fold (95% CI, 2.02–24.7; p=0.004) greater likelihood of experiencing cardiac-death/ACS and stroke/PAD, respectively (picture). Multivariate analysis demonstrated severe FH as an independent predictor of both cardiac-death/ACS (hazard ratio=3.39, 95% CI=1.12–14.7, p=0.02) and stroke/PAD (hazard ratio=3.38, 95% CI=1.16–14.3, p=0.02) events. Clinical characteristics of severe FH Non-severe FH Severe FH P-value Baseline LDL-C (mmol/l) 5.3±1.5 6.6±2.0 <0.0001 Lp(a) (mg/dl) 15 [8–28] 21 [10–49] <0.0001 LDLR mutation (%) 49.6% 58.9% 0.00398 On-treatment LDL-C (mmol) 133 [106–165] 135 [103–169] 0.9856 %LDL-C reduction>50% 21.3% 49.8% <0.0001 High-intensity statin (%) 13.3% 42.3% <0.0001 PCSK9 inhibitor (%) 6.3% 21.2% <0.0001 Clinical outcome Conclusions Severe FH subjects exhibit substantial atherosclerotic risks for coronary, carotid and peripheral arteries despite lipid lowering therapy. Our finding underscore the screening of systemic arteries and the adoption of further stringent lipid management in severe FH patients.

scholarly journals 2214Prevalence and severity of coronary disease in patients with familial hypercholesterolemia hospitalized for an acute myocardial infarction: data from the RICO survey

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
M Farnier ◽  
B Mouhat ◽  
T Pommier ◽  
H Yao ◽  
M Maza ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Familial Hypercholesterolemia ◽  
Statin Treatment ◽  
University Hospital ◽  
Lipid Lowering ◽  
Syntax Score ◽  
World Population ◽  
Lipid Lowering Therapy ◽  
History Of ◽  
Acute Mi

Abstract Aim Individuals with heterozygous familial hypercholesterolemia (FH) are at high risk of early myocardial infarction (MI). However, coronary artery disease (CAD) burden of FH remains not well described. From a large database of a regional registry of acute MI, we aimed to address prevalence of FH and severity of CAD. Methods Consecutive patients hospitalized with MI in a multicentre database from 2001–2017 were considered. An algorithm, adapted from Dutch Lipid Clinic Network criteria, was built upon 4 variables (LDL-cholesterol (LDL-C) and lipid lowering agents, premature and family history of CAD) to identify FH probabilities. Results Among the 11624 patients included in the survey, 249 (2.1%) had probable/definite FH (score ≥6), and 2405 (20.7%) had possible FH (score 3–5). When compared with patients without FH (score 0–2), FH patients (score ≥6) were 20y younger (51 (46–57) vs 71 (61–80) y, p<0.001), with a lower rate of hypertension (47 vs 59%, p<0.001), diabetes (17 vs 25%, p<0.001) and prior stroke (4 vs 8%, p=0.016), but a higher prevalence of smokers (56 vs 23%, p<0.001), personal (20 vs 15%, p=0.02) or familial history of CAD (78 vs 18%, p<0.001). Chronic statin treatment was only used in 48% of FH patients and ezetimibe in 8%. After adjustment for age, sex and diabetes, FH patients were characterized by increased extent of CAD (syntax score 11 (4–19) vs 7 (1–13), p<0.001) and multivessel disease (55 vs 40%, p<0.001). Conclusion In this large real world population of acute MI, a high prevalence of FH was found. FH patients were characterized by their young age associated with the severity of CAD burden and limited use of preventive lipid lowering therapy. Acknowledgement/Funding University Hospital Center Dijon Bourgogne, Agence Régionale de Santé Bourgogne Franche Comté, France

Cross-Sectional Study to Estimate the Prevalence of Familial Hypercholesterolemia in Selected Regions of the Russian Federation: Relevance, Design of the Study and Initial Characteristics of the Participants

2020 ◽  
Vol 16 (1) ◽  
pp. 24-32
Author(s):  
A. N. Meshkov ◽  
A. I. Ershova ◽  
S. A. Shalnova ◽  
A. S. Alieva ◽  
S. S. Bazhan ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Cardiovascular Diseases ◽  
Familial Hypercholesterolemia ◽  
Russian Federation ◽  
Regional Differences ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Lowering Therapy ◽  
History Of ◽  
The Russian Federation

Aim. To study the prevalence of familial hypercholesterolemia (FH), the characteristics of the clinical features and treatment of the disease in selected regions of the Russian Federation, this article describes the design and initial characteristics of patients included in the study.Material and methods. The study participants were selected among those included in the study “Epidemiology of cardiovascular risk factors and diseases in the regions of the Russian Federation” (ESSE-RF) in different regions of the Russian Federation. The study included individuals with lowdensity lipoprotein cholesterol (LDL-C) levels >4.9 mmol/l or LDL-C levels >1.8 mmol/l, but ≤4.9 mmol/l during statin therapy, according to the data obtained in the ESSE-RF study. These persons are invited for examination and questioning by experts in the field of FH diagnostics. On the basis of the survey data and provided medical documentation, the following information is collected: age, sex, smoking status, presence of hypertension, history of coronary artery disease, stroke, atherosclerosis of cerebral and peripheral arteries, LDL-C level, type, volume and duration of lipid-lowering therapy throughout life, presence and dates of secondary causes of hyperlipidemia, information about the family history of development of early cardiovascular diseases and atherosclerotic diseases, increased levels of LDL-C in relatives of the 1st and 2nd degree of kinship. All patients are examined for the presence of tendon xanthomas (Achilles, metacarpal, elbow, knee tendons) and Corneal arcus. During the visit, blood is taken for subsequent biobanking, measurement of current blood lipid levels, elimination of secondary forms of hypercholesterolemia (for subsequent determination of liver enzymes, thyroid stimulating hormone) and genetic testing. The diagnosis of FH is based on Dutch Lipid Clinical Network Criteria (DLCN). Besides, all participants in the study are tested for compliance with the diagnosis of FH according to Simon Broome criteria. All patients with a definite or probable diagnosis of FH according to DLCN or Simon Broome criteria are subjected to ultrasound examination of carotid, femoral arteries and heart and molecular genetic testing for LDLR, APOB and PCSK9 gene variants.Results. Out of 16 360 participants of the ESSE-RF study in 10 regions, 1787 people (10,9%) met the criteria for inclusion in this study. Among them, men accounted for 35.4%, of which 1150 (7%) patients had a LDL-C level >4.9 mmol/l and 637 (3,9%) had a LDL-C level from 1,81 mmol/l to 4.9 mmol/l during lipid-lowering therapy. When compared to the original cohorts of participants from the 10 regions as compared to 3 previously surveyed regions and selected sub-groups within these cohorts we observed significant differences in several parameters such as age, total cholesterol level, triglycerides, LDL-C, the frequency of cardiovascular diseases, that may indicate regional differences in FH prevalence.Conclusion. The analysis of clinical data of the participants of the ESSE-RF study shows that more than 10% of individuals require an additional examination to verify the FH diagnosis, and regional differences in the FH prevalence are possible.

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