scholarly journals Reduction in Mortality in Subjects With Homozygous Familial Hypercholesterolemia Associated With Advances in Lipid-Lowering Therapy

Circulation ◽  
2011 ◽  
Vol 124 (20) ◽  
pp. 2202-2207 ◽  
Author(s):  
Frederick J. Raal ◽  
Gillian J. Pilcher ◽  
Vanessa R. Panz ◽  
Hendrick E. van Deventer ◽  
Brigitte C. Brice ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Homozygous Familial Hypercholesterolemia ◽  
Lowering Therapy

scholarly journals Homozygous familial hypercholesterolemia: modern aspects of pathogenesis, diagnostics and treatment

2018 ◽  
pp. 253-259
Author(s):  
V. К. Zafiraki ◽  
Е. D. Kosmacheva ◽  
I. N. Zakharova ◽  
V. A. Korneva ◽  
A. V. Susekov
Keyword(s):  
Familial Hypercholesterolemia ◽  
Genetic Disease ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Premature Death ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Low Density ◽  
Homozygous Familial Hypercholesterolemia ◽  
Lowering Therapy

Homozygous familial hypercholesterolemia is a rare genetic disease featuring extremely high of low-density lipoprotein blood level, cutaneous and tendon xanthomas and accelerated atherosclerosis with often manifestions in the first 2 decades of life, resulting to premature death due to atherosclerosis-related diseases. Modern combined lipid-lowering therapy is able to increase life duration considerably for these patients.

Patient with homozygous familial hypercholesterolemia: difficult to treat. Case report

2020 ◽  
Vol 1 (1) ◽  
pp. 35-41
Author(s):  
Andrey Susekov ◽  
◽  
Tatyana Balakhonova ◽  
Vladislav Soloviev ◽  
Yuliia Isaeva ◽  
...  
Keyword(s):  
Case Report ◽  
Achilles Tendon ◽  
Total Cholesterol ◽  
Familial Hypercholesterolemia ◽  
Carotid Arteries ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Homozygous Familial Hypercholesterolemia ◽  
Atherosclerosis Progression ◽  
Lowering Therapy

Homozygous familial hypercholesterolemia is a severe genetic disorder characterized by extremely high levels of total cholesterol and low-density lipoprotein cholesterol (LDL-C), as well as by rapid atherosclerosis progression in various vascular territories. Objective examination of the affected patients often reveals multiple Achilles tendon xanthomas, xanthomas on the extensor surface of arms, knee joints, etc. The prevalence of such severe inherited hyperlipidemia in many populations is about 1 : 1 000 000, however, the family heterozygous type frequency increase leads to the decrease of this value and to the increase in the affected people number. The paper introduces case report for the patient V.I. aged 16 who was diagnosed with homozygous familial hypercholesterolemia at the age of 12. DNA testing revealed pathogenic mutations in the LDL receptor gene which confirmed the diagnosis. The paper reports the results of the discussed patient treatment using triple-drug combination lipid-lowering therapy with rosuvastatin (40 mg/day), ezetimibe (10 mg/day) and evolocumab (420 mg/day) in the last two years. The total cholesterol level decreased from 20.8 mmol/L (baseline) to 7.3–12.00 mmol/L, and the LDL-C level decreased from 19.9 mmol/L to 4.6–9.9 mmol/L due to therapy, the treatment was well tolerated. During the observation period, a rapid regression of xanthomas on the buttocks, knee and elbow joints, and Achilles tendon was achieved. A series of baseline instrumental tests (2013) revealed severe atherosclerosis of carotid arteries (maximum stenosis up to 50%), and first symptoms of aortic valve stenosis. Another examination in the hospital (2019) revealed slowing the progression of atherosclerosis in the carotid arteries and aorta, however, the arterial hypertension onset required additional prescription of a low dose of enalapril. Exercise testing and Holter ECG monitoring has yet identified no myocardial ischemia. Thus, the timely diagnosis together with long-term triple-drug intensive lipid-lowering therapy make it possible to slow down the atherosclerosis progression in the discussed rare and severe category of patients.

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

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.

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.

1.P.192 Regression of tendon xanthomata after lipid lowering therapy in patients with heterozygous familial hypercholesterolemia

1997 ◽  
Vol 134 (1-2) ◽  
pp. 57
Author(s):  
G. Kolovou ◽  
A. Hatzaki ◽  
N. Kafaltis ◽  
J. Hoursalas ◽  
E. Adamopoulou ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Heterozygous Familial Hypercholesterolemia ◽  
Lowering Therapy

Cardiovascular risk in patients with familial hypercholesterolemia using optimal lipid-lowering therapy

2018 ◽  
Vol 12 (2) ◽  
pp. 409-416 ◽  
Author(s):  
Annette M. Galema-Boers ◽  
Mattie J. Lenzen ◽  
Sophie R. Engelkes ◽  
Eric J. Sijbrands ◽  
Jeanine E. Roeters van Lennep
Keyword(s):  
Cardiovascular Risk ◽  
Familial Hypercholesterolemia ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Lowering Therapy

scholarly journals Hypercholesterolemia in children and adolescents: focus on the familial variant

2021 ◽  
pp. 294-299
Author(s):  
I. N. Zakharova ◽  
I. M. Osmanov ◽  
I. I. Pshenichnikova ◽  
T. M. Tvorogova ◽  
I. N. Kholodova ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
Familial Hypercholesterolemia ◽  
Age Groups ◽  
Index Patient ◽  
Vascular Lesions ◽  
Cholesterol Concentration ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Cascade Screening ◽  
Lowering Therapy

Familial hypercholesterolemia is characterized by a significant increase in serum low-density lipoprotein cholesterol concentration, which even in the absence of other risk factors leads to the development of atherosclerotic vascular lesions beginning in childhood. With significant prevalence in the population, familial hypercholesterolemia is rarely diagnosed in time due to the Long absence of clinical manifestations. Today the urgent task is to develop and implement programs of primary detection of familial hypercholesterolemia in children and adolescents. Early detection of patients with familial hypercholesterolemia and timely initiation of adequate lipid-lowering therapy will curb the rate of atherosclerosis progression, which will significantly reduce disability and mortality from cardiovascular diseases in older age groups. There are four types of screening: cascade, targeted, opportunistic and universal. Cascade screening is currently considered the most effective and cost-effective way to identify new patients with familial hypercholesterolemia among relatives of an index patient, the patient with the established diagnosis. Targeted screening is based on searching for individuals with familial hypercholesterolemia among groups of patients with the early development of atherosclerotic vascular lesions, for example, in cardiology or neurology hospitals. Opportunistic screening is a non-systematic, sporadic determination of cholesterol levels in patients seeking medical care for any reason. It is most applicable in primary care health care settings. Universal screening is a mass screening of certain age groups and is a highly effective way of early diagnosis, especially in combination with reverse cascade screening of parents, siblings, and other relatives of the index patient. Implementation of programs of early childhood detection of familial hypercholesterolemia, setting up systems of adequate routing of patients, timely prescription of effective lipid-lowering therapy will contribute to health preservation and prolongation of working age, development, and preservation of labor potential of the country.

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