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European Heart Journal Aug 2014Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition characterized by markedly elevated circulating levels of low-density lipoprotein...
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.
AIMS
Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). Given recent insights into the heterogeneity of genetic defects and clinical phenotype of HoFH, and the availability of new therapeutic options, this Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) critically reviewed available data with the aim of providing clinical guidance for the recognition and management of HoFH.
METHODS AND RESULTS
Early diagnosis of HoFH and prompt initiation of diet and lipid-lowering therapy are critical. Genetic testing may provide a definitive diagnosis, but if unavailable, markedly elevated LDL-C levels together with cutaneous or tendon xanthomas before 10 years, or untreated elevated LDL-C levels consistent with heterozygous FH in both parents, are suggestive of HoFH. We recommend that patients with suspected HoFH are promptly referred to specialist centres for a comprehensive ACVD evaluation and clinical management. Lifestyle intervention and maximal statin therapy are the mainstays of treatment, ideally started in the first year of life or at an initial diagnosis, often with ezetimibe and other lipid-modifying therapy. As patients rarely achieve LDL-C targets, adjunctive lipoprotein apheresis is recommended where available, preferably started by age 5 and no later than 8 years. The number of therapeutic approaches has increased following approval of lomitapide and mipomersen for HoFH. Given the severity of ACVD, we recommend regular follow-up, including Doppler echocardiographic evaluation of the heart and aorta annually, stress testing and, if available, computed tomography coronary angiography every 5 years, or less if deemed necessary.
CONCLUSION
This EAS Consensus Panel highlights the need for early identification of HoFH patients, prompt referral to specialized centres, and early initiation of appropriate treatment. These recommendations offer guidance for a wide spectrum of clinicians who are often the first to identify patients with suspected HoFH.
Topics: Anticholesteremic Agents; Arcus Senilis; Atherosclerosis; Blood Component Removal; Cardiovascular Diseases; Cholesterol, LDL; Diagnosis, Differential; Early Diagnosis; Gene Frequency; Genetic Heterogeneity; Homozygote; Humans; Hyperlipoproteinemia Type II; Liver Transplantation; Mutation; Pedigree; Phenotype; Practice Guidelines as Topic; Xanthomatosis
PubMed: 25053660
DOI: 10.1093/eurheartj/ehu274 -
Indian Journal of Ophthalmology May 2022To evaluate corneal densitometry (CD) of patients with arcus senilis (AS) and its association with the serum lipid markers.
PURPOSE
To evaluate corneal densitometry (CD) of patients with arcus senilis (AS) and its association with the serum lipid markers.
METHODS
This is a cross-sectional, case-control study. The AS diagnosis was made clinically. Forty-five eyes of 45 patients with AS and 38 eyes of 38 age-matched control subjects with no noticeable AS were enrolled in the study. All participants underwent detailed ophthalmologic examination along with corneal Scheimpflug imaging with CD measurement. The evaluated serum lipid markers of the participants included total cholesterol, triglyceride, low-density lipoprotein (LDL), high-density lipoprotein (HDL), and very-low-density lipoprotein (VLDL). The Spearman correlation analysis was used to correlate the serum lipid values and the CD. P < 0.05 was defined as statistically significant.
RESULTS
The male to female ratio was 26/19 and 14/24 in the study and control groups, respectively (P = 0.057). The mean age was 59.56 ± 8.7 and 56.47 ± 8.6 years in the study and control groups, respectively (P = 0.117). The mean total CD values in the zones extending from 2 to 12 mm were higher in the study group than in the control group (P < 0.001). The serum HDL level was found to be significantly decreased in the study group compared to the control group (P = 0.048 and Z = -1.976). There was a significant positive correlation between the serum triglyceride level and the CD value of the outermost zone (10-12 mm) (r = 0.334 and P = 0.025).
CONCLUSION
The CD of patients with AS was found to increase not only in the peripheral zone but also in the cornea's paracentral zone compared to the healthy controls. The serum triglyceride level should give an insight into the intensity of arcus senilis. The serum HDL levels were decreased in patients with AS.
Topics: Aged; Arcus Senilis; Case-Control Studies; Cornea; Cross-Sectional Studies; Densitometry; Female; Humans; Male; Middle Aged; Triglycerides
PubMed: 35502026
DOI: 10.4103/ijo.IJO_2696_21 -
Journal of Pharmacy & Bioallied Sciences Apr 2015The corneal arcus consists of cholesterol, phospholipids and triglycerides. As serum triglyceride is one of the accurate of lipid metabolic state, greater importance was...
The corneal arcus consists of cholesterol, phospholipids and triglycerides. As serum triglyceride is one of the accurate of lipid metabolic state, greater importance was given, and it was found to be elevated in 72% of patients and a positive correlation with increasing age. This suggests a strong correlation between impairment of lipid metabolism and incidence of corneal arcus.
PubMed: 26015693
DOI: 10.4103/0975-7406.155765 -
Indian Journal of Ophthalmology Oct 2019
Topics: Aged; Arcus Senilis; Cataract; Cataract Extraction; Cornea; Humans; Male; Visual Acuity
PubMed: 31546532
DOI: 10.4103/ijo.IJO_402_19 -
PloS One 2021We aimed to determine the prevalence of corneal arcus and to identify associated factors in the general population of Germany. (Observational Study)
Observational Study
PURPOSE
We aimed to determine the prevalence of corneal arcus and to identify associated factors in the general population of Germany.
METHODS
The Gutenberg Health Study (GHS) is a population-based cohort study in Germany, which includes an ophthalmological assessment. Refraction, distance-corrected visual acuity, non-contact tonometry and anterior segment imaging were performed for the five-year follow-up examination. Anterior segment photographs were graded for the presence of corneal arcus. Prevalence estimates were computed, and multivariable logistic regression analysis was applied to determine associated factors for corneal arcus including sex, age, spherical equivalent, central corneal thickness, intraocular pressure (IOP), socio-economic status, smoking, BMI, systolic and diastolic arterial blood pressure, HbA1c, HDL-C, LDL-C, triglyceride, and lipid modifying agents.
RESULTS
A total of 9,850 right and 9,745 left eyes of 9,858 subjects (59.2±10.8 years), 49.0% females were included in this cross-sectional analysis. 21.1% of men (95%-CI: 20.0%- 22.3%) had a corneal arcus in at least one eye, and 16.9% (95%-CI: 15.9%- 18.0%) of women. In multivariable analyses, the presence of corneal arcus was associated with male gender (OR = 0.54 for female, p<0.0001), higher age (OR = 2.54 per decade, p<0.0001), smoking (OR = 1.59, p<0.0001), hyperopia (OR = 1.05 per diopter, p<0.0001), thinner cornea (OR = 0.994 per μm, p<0.0001), higher IOP (OR = 1.02, p = 0.039), higher HDL-C-level (OR = 2.13, p<0.0001), higher LDL-C-level (OR = 1.21, p<0.0001), and intake of lipid modifying agents (OR = 1.26, p = 0.0001). Arcus was not associated with socio-economic status, BMI, arterial blood pressure, and HbA1c.
CONCLUSIONS
Corneal arcus is a frequent alteration of the cornea in Germany and is associated with ocular parameters and systemic parameters of dyslipidemia.
Topics: Arcus Senilis; Cornea; Cross-Sectional Studies; Female; Germany; Humans; Intraocular Pressure; Male; Middle Aged; Prevalence; Prospective Studies; Visual Acuity
PubMed: 34547023
DOI: 10.1371/journal.pone.0255893 -
Journal of Cardiovascular Pharmacology Mar 2017The Hypertension Community has 3 conflicting dilemmas: a goal systolic pressure of 120 mm Hg or less (the SPRINT Trials), 40% of our 60,000,000 hypertensives still... (Review)
Review
UNLABELLED
The Hypertension Community has 3 conflicting dilemmas: a goal systolic pressure of 120 mm Hg or less (the SPRINT Trials), 40% of our 60,000,000 hypertensives still sustain blood pressures above 140/90 mm Hg, and our most potent antihypertensive drug minoxidil sits on the sidelines, imprisoned in the Food and Drug Administration's Black Box designation. My solutions to these dilemmas are: (1) review of the facts of our most potent antihypertensive drug minoxidil which is essentially free of toxicity, (2) treatment focus on the fundamental cause of high blood pressure, that is excess dietary sodium and, (3) prevention of, and/or reversal of, the fundamental mechanism of worsening hypertension, arteriolar hypertrophy.
SUMMARY
The Hypertension Community has 3 conflicting dilemmas: a goal systolic pressure of 120 mm Hg or less (the SPRINT Trials), 40% of our 60,000,000 hypertensives still sustain blood pressures above 140/90 mm Hg, and our most potent antihypertensive drug minoxidil sits on the sidelines, imprisoned in the Food and Drug Administration's Black Box designation. My solutions to these dilemmas are: (1) review of the facts of our most potent antihypertensive drug minoxidil which is essentially free of toxicity, (2) treatment focus on the fundamental cause of high blood pressure (HBP) and excess dietary sodium and, (3) prevention of, and/or reversal of, the fundamental mechanism of worsening hypertension, arteriolar hypertrophy. My focus at UT Southwestern in Dallas was on extremely severely hypertensive patients with a quantifiable, measurable complication of HBP, progression of nephrosclerotic damage to kidneys. This model had the greatest likelihood of exposing fundamental disregulatory mechanisms in hypertensive patients (which it did) and the potential for study of the most relevant antihypertensive drug interactions to achieve optimal blood pressure control (which it did). By maintaining diastolic pressures at 80 mm Hg or less in the first National Institutes of Health-supported, long-term randomized clinical trial to save the kidneys, the bases for a fundamental blood pressure support mechanism (arteriolar hypertrophy) was illuminated but not fully described until now. This fundamental hypertensinogenic mechanism results from HBP but with time and severity, becomes its own raison d'être. I am now aged 84 years. As a result of a stroke 20 years ago, which caused permanent double vision, and because of poor blood pressure control with triple therapy, I started using minoxidil 5 mg/d along with atenolol and occasional furosemide. Now, along with some dietary salt restriction, my resting blood pressure is 110/65-125/75 and, despite >30 years history of HBP, I have no retinal arteriolar hypertrophy nor arcus senilis (Dr. Schwartz-U. of Miami) which is almost universally present at this age. Yes, prevention of, or reversal of, arteriolar hypertrophy should be a central focus of HBP treatment. I simply wish to share a bit of accumulated wisdom that might be of use to others.
Topics: Angiotensin-Converting Enzyme Inhibitors; Antihypertensive Agents; Blood Pressure; Calcium Channel Blockers; Humans; Hypertension; Kidney; Minoxidil; Sodium Chloride, Dietary
PubMed: 28267687
DOI: 10.1097/FJC.0000000000000458 -
British Heart Journal Jul 1970The frequency and degree of arcus in relation to a number of attributes or risk factors were tested in 534 male patients of all ages with coronary heart disease....
The frequency and degree of arcus in relation to a number of attributes or risk factors were tested in 534 male patients of all ages with coronary heart disease. Frequency and degree of arcus were positively associated with age and with lifetime alcohol intake. Arcus was negatively associated with obesity. All other correlations proved negative. The link between precocious arcus senilis and coronary heart disease is discussed. This investigation failed to show any relation between the acknowledged high-grade coronary heart disease risk factors and arcus senilis. It is suggested that the relation between arcus and alcohol intake merits further investigation.
Topics: Adult; Age Factors; Aged; Alcohol Drinking; Arcus Senilis; Blood Pressure; Cornea; Coronary Disease; Glucose Tolerance Test; Humans; Lipids; Male; Middle Aged; Obesity; Skinfold Thickness; Smoking
PubMed: 5433305
DOI: 10.1136/hrt.32.4.449 -
BMC Ophthalmology Aug 2022To determine the age and sex-standardized prevalence of corneal arcus and its associated factors in a geriatric population.
PURPOSE
To determine the age and sex-standardized prevalence of corneal arcus and its associated factors in a geriatric population.
METHODS
This population-based cross-sectional study was conducted in 2019 in Tehran; the capital of Iran, using a multi-stage stratified random cluster sampling method. All participants underwent a detailed interview, blood pressure measurement, laboratory blood tests, and a complete ocular examination.
RESULTS
Three thousand three hundred ten of 3791 invitees participated in the study (response rate: 87.31%). The mean age of the participants was 69.35 ± 7.62 years (60-97 years) and 1912 (57.76%) were female. Overall, the age and sex-standardized prevalence (95% CI) of corneal arcus was 44.28% (41.21-47.39). Based on the multiple logistic regression, the odds of corneal arcus were higher in men than in women (OR: 1.51; 95% CI: 1.14-2.00); in the age group ≥ 80 years compared to the age group 60-64 years (OR: 2.44; 95% CI: 1.68-3.53), and in retired people compared to employed individuals (OR: 2.05; 95% CI: 1.31-3.21).
CONCLUSION
The present study showed a high prevalence of corneal arcus in the geriatric population. Although various studies have reported a significant relationship between corneal arcus with blood lipid and glucose levels as well as blood pressure, these relationships were not found in the present study.
Topics: Aged; Aged, 80 and over; Arcus Senilis; Blood Pressure; Cross-Sectional Studies; Female; Humans; Iran; Male; Middle Aged; Prevalence
PubMed: 36045353
DOI: 10.1186/s12886-022-02578-6