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American Journal of Ophthalmology Nov 2017To examine the longitudinal relationship between baseline corneal arcus (CA) and incident cardiovascular disease (CVD) in ethnic Indian and Malay adults in Singapore.
PURPOSE
To examine the longitudinal relationship between baseline corneal arcus (CA) and incident cardiovascular disease (CVD) in ethnic Indian and Malay adults in Singapore.
DESIGN
Population-based cohort study.
METHODS
Indian and Malay adults aged 40-80 years were recruited for baseline and 6-year follow-up visits between 2004-2009 and 2010-2015, respectively (follow-up response rate 73.9%). CA was assessed by ophthalmologists using slit-lamp biomicroscopy. The main outcome was self-reported incident CVD, defined as new myocardial infarction, angina pectoris, or stroke, which developed between baseline and follow-up. Multivariable logistic regression models assessed independent associations between baseline CA and incident CVD, adjusting for traditional CVD risk factors including age, sex, serum cholesterol, hypertension, diabetes, and smoking. We further conducted sex-stratified analyses to identify possible effect modifications.
RESULTS
Of the total 3637 participants (overall mean [SD] age: 56 [9] years, 46% male) with available follow-up data, without history of CVD at baseline, 208 (5.7%) incident CVD cases were reported. Participants with CA were more likely to have incident CVD (7.5%) than those without (4.9%). After controlling for traditional CVD risk factors, CA was independently associated with incident CVD (odds ratio [95% confidence interval]: 1.52 [1.07-2.16]) in adjusted models. In sex-stratified models, associations between CA and incident CVD were seen in men (1.73 [1.12-2.67]) and not in women (1.05 [0.56-1.97]).
CONCLUSIONS
CA is associated with incident CVD, independent of serum lipids and traditional CVD risk factors, in ethnic Malay and Indian men. Our finding suggests that CA is an additional observable indicator of CVD in men.
Topics: Adult; Age Distribution; Aged; Aged, 80 and over; Arcus Senilis; Cardiovascular Diseases; Cornea; Ethnicity; Female; Follow-Up Studies; Humans; Incidence; Male; Microscopy, Acoustic; Middle Aged; Population Surveillance; Prospective Studies; Risk Assessment; Risk Factors; Sex Distribution; Singapore; Time Factors
PubMed: 28911992
DOI: 10.1016/j.ajo.2017.09.002 -
Cureus Jul 2023Type V hyperlipoproteinemia or multifactorial chylomicronemia syndrome is a rare lipid disorder triggered mainly by uncontrolled diabetes, obesity, poor diet, or...
Type V hyperlipoproteinemia or multifactorial chylomicronemia syndrome is a rare lipid disorder triggered mainly by uncontrolled diabetes, obesity, poor diet, or particular medications. It is associated with an increased risk of acute pancreatitis and accelerated coronary artery disease which may manifest in younger age groups. We present a case of a 42-year-old male who presented to the emergency department (ED) complaining of a non-healing hand injury. Upon laboratory workup, the patient was found to have an elevated total cholesterol (TC) of 1129 mg/dL, very low levels of high-density lipoprotein (HDL) and triglycerides (TG) > 4000 mg/dL with an inability to calculate low-density lipoprotein (LDL). Lipoprotein electrophoresis revealed an actual TG level of > 7000 mg/dL, increased chylomicrons, normal B and pre-B-lipoproteins, and increased L-lipoproteins with an elevated Apolipoprotein B. Despite these derangements, the patient did not exhibit any abdominal complaints, demonstrating a normal lipase level. The physical exam was indicative of bilateral arcus senilis and obesity. Insulin drip was initiated along with intravenous (IV) hydration and it required 12 days to bring triglycerides down to less than 1000 mg/dL. The total cholesterol was also seen to be down trending to around 500 mg/dL and the HDL improved to 22 mg/dL. We present this case as a unique presentation of asymptomatic chylomicronemia resistant to insulin treatment with an elevated ApoB but with no evidence of pancreatitis or coronary artery disease.
PubMed: 37546045
DOI: 10.7759/cureus.41424 -
European Journal of Ophthalmology Sep 2023Cranial autonomic dysregulation is a common symptom of patients suffering from cluster headache or migraine. The peripheral vascular dysfunction may increase the risk...
BACKGROUND
Cranial autonomic dysregulation is a common symptom of patients suffering from cluster headache or migraine. The peripheral vascular dysfunction may increase the risk for ischemic or hemorrhagic strokes, myocardial infarction, retinal vasculopathy, cardiovascular mortality, and peripheral artery diseases. Furthermore, it may also manifest with ocular symptoms, e.g., increased lacrimation, conjunctival injection, and facial swelling.
CASE PRESENTATION
We here report a case of a patient with migraine and ocular signs of a vascular dysregulation that have led to persisting changes of conjunctival vessels and to a corneal arcus.
CONCLUSIONS
Autonomic vascular dysregulation may not only cause headaches but also persisting changes of ocular tissues, e.g., conjunctival vessel alterations and a corneal arcus.
Topics: Humans; Arcus Senilis; Migraine Disorders; Cluster Headache; Headache; Conjunctiva
PubMed: 36325686
DOI: 10.1177/11206721221136426 -
Arteriosclerosis, Thrombosis, and... Jan 2016Patients with familial hypercholesterolemia (FH) are at high risk for premature atherosclerotic cardiovascular disease (ASCVD), especially because of long-term exposure...
OBJECTIVE
Patients with familial hypercholesterolemia (FH) are at high risk for premature atherosclerotic cardiovascular disease (ASCVD), especially because of long-term exposure to high low-density lipoprotein cholesterol levels. It has been reported that low-density lipoprotein-lowering therapy delays the onset of ASCVD. However, it still remains difficult to prevent it. Therefore, novel biomarkers and therapeutic targets are necessary to evaluate and prevent atherosclerosis in FH. The aim of this study was to investigate associations of cholesterol efflux capacity with the presence of ASCVD and clinical features in patients with heterozygous FH.
APPROACH AND RESULTS
We measured cholesterol efflux capacity in 227 patients with heterozygous FH under pharmaceutical treatment. Seventy-six (33.5%) of them were known to have ASCVD. In a logistic-regression analysis adjusted for risk factors, increased efflux capacity was associated with decreased risk of ASCVD even after the addition of high-density lipoprotein cholesterol level as a covariate (odds ratio per 1-SD increase, 0.95; 95% confidence interval, 0.90-0.99; P<0.05). Decreased cholesterol efflux capacity was associated with the presence of corneal arcus after adjusting for age and sex. In addition, inverse relationships between cholesterol efflux capacity and Achilles tendon thickness, as well as carotid intima-media thickness, were observed after adjustment for age, sex, and traditional cardiovascular risk factors.
CONCLUSIONS
Cholesterol efflux capacity was independently and inversely associated with the presence of ASCVD in heterozygous FH. In view of residual risks after treatment with statins, cholesterol efflux capacity might be a novel biomarker and a therapeutic target for preventing atherosclerosis in patients with FH.
Topics: Achilles Tendon; Adult; Aged; Arcus Senilis; Asymptomatic Diseases; Atherosclerosis; Biomarkers; Carotid Artery Diseases; Carotid Intima-Media Thickness; Cholesterol, HDL; Cross-Sectional Studies; Female; Genetic Predisposition to Disease; Heterozygote; Humans; Hyperlipoproteinemia Type II; Linear Models; Logistic Models; Male; Middle Aged; Mutation; Odds Ratio; Phenotype; Proprotein Convertase 9; Proprotein Convertases; Radiography; Receptors, LDL; Serine Endopeptidases
PubMed: 26543100
DOI: 10.1161/ATVBAHA.115.306665 -
QJM : Monthly Journal of the... Aug 2021
Topics: Arcus Senilis; Cornea; Dyslipidemias; Humans
PubMed: 32770245
DOI: 10.1093/qjmed/hcaa236 -
Australian Journal of General Practice Sep 2019
Topics: Anticholesteremic Agents; Arcus Senilis; Cholesterol; Cholesterol, LDL; Coronary Disease; Diet; General Practice; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Hyperlipoproteinemia Type II; Life Style; Medical History Taking; Phenotype; Risk Reduction Behavior; Xanthomatosis
PubMed: 31476827
DOI: 10.31128/AJGP-04-19-4910 -
Journal Francais D'ophtalmologie Dec 2018The objective of this article is to describe the evolution of Schnyder dystrophy in 3 related patients of different ages and to highlight the discovery of a new mutation...
INTRODUCTION
The objective of this article is to describe the evolution of Schnyder dystrophy in 3 related patients of different ages and to highlight the discovery of a new mutation unidentified until now.
CASE REPORT
We present a series of 3 cases, all first-degree relatives with no suggestion of consanguinity, of different ages (30, 40 and 59 years) and two distinct generations (mother and children). Slit lamp examination revealed the same lesions in our three patients: an early-onset corneal arcus senilis, central corneal deposits, and a gray stromal haze in the two oldest subjects. The older the patient, the more numerous and dense were these lesions. The various anterior segment OCTs showed an increase in the number of hyperreflective opacities in the anterior stroma and, in the older subject, the appearance of many posterior shadows. Monitoring of pachymetry by Pentacam showed progressive age-related thickening. All three patients had dyslipidemia treated with statins or diet alone. In our case we proposed treatment only to subject A because of the significant impact on her visual acuity.
DISCUSSION
Numerous clinical, para-clinical and genetic descriptions of this disease are found in the literature. Schnyder dystrophy is rare but not unheard of and may be discovered fortuitously or in the setting of decreased visual acuity. Genetic analysis of our family revealed a mutation of the UBIAD1 gene not described in the literature. UBIAD1 encodes the protein domain-containing UbiA prenyltransferase 1 which converts vitamin K1 into K2 and is involved in the cholesterol synthesis pathway. In the case of a mutation, it is no longer functional, leading to the accumulation of cholesterol crystals. Given the clinical context and the presence of this variant of the reference sequence in all relatives, its pathogenesis is strongly suspected in our family. The originality of our article is to present the progression of the same pathology in 3 patients with the same mutation at different ages and degrees of severity. This notion of progressive worsening and the need to treat late in the majority of cases are found in literature.
CONCLUSION
The discovery of a new variant within the UBAID1 gene suggests its pathogenesis in view of the clinical features available to us. The dystrophy is initially asymptomatic before the high number of deposits becomes disabling.
Topics: Adult; Corneal Dystrophies, Hereditary; DNA Mutational Analysis; Dimethylallyltranstransferase; Family; Female; France; Humans; Male; Middle Aged; Mutation, Missense; Pedigree
PubMed: 30446344
DOI: 10.1016/j.jfo.2018.03.010 -
Atherosclerosis Aug 2017There is controversy on the accuracy of different diagnostic criteria for familial hypercholesterolemia (FH). The aim of this study is to assess the performance of... (Comparative Study)
Comparative Study
BACKGROUND AND AIMS
There is controversy on the accuracy of different diagnostic criteria for familial hypercholesterolemia (FH). The aim of this study is to assess the performance of different clinical criteria used to identify individuals for FH genetic cascade screening in Brazil.
METHODS
All index cases (IC) registered in the Hipercol Brasil program between 2011 and 2016 were analyzed. Inclusion criteria were age ≥18 years and elevated LDL-cholesterol (LDL-C) levels, with a conclusive result in the genetic test, whether positive or negative. Initially, we tested the multivariable association between clinical and laboratory markers and the presence of an FH causing mutation. Then, we analyzed sensitivity, specificity, positive and negative predictive values for the LDL-C quartile distribution, LDL-C as a continuous variable, as well as the performance measures for the Dutch Lipid Clinic Network (DLCN) score to identify a mutation.
RESULTS
Overall, 753 ICs were included and an FH causing mutation was found in 34% (n = 257) of the subjects. After multivariable analysis, LDL-C as a continuous variable, tendon xanthomas and corneal arcus were independently associated with the presence of FH mutations. LDL-C values ≥ 230 mg/dL (5.9 mmol/L) had the best tradeoff between sensitivity and specificity to diagnose a mutation. The DLCN score presented a better performance than LDL-C to identify a mutation, area under the ROC curve were 0.744 (95% CI: 0.704-0.784) and 0.730 (95% CI: 0.687-0.774), respectively, p=0.014.
CONCLUSIONS
In our population, LDL ≥230 mg/dL is a feasible criterion to indicate ICs to genetic testing.
Topics: Adult; Aged; Arcus Senilis; Area Under Curve; Biomarkers; Brazil; Chi-Square Distribution; Cholesterol, LDL; Clinical Decision-Making; DNA Mutational Analysis; Feasibility Studies; Female; Genetic Predisposition to Disease; Genetic Testing; Humans; Hyperlipoproteinemia Type II; Logistic Models; Male; Middle Aged; Multivariate Analysis; Mutation; Patient Selection; Phenotype; Predictive Value of Tests; ROC Curve; Reproducibility of Results; Risk Factors; Up-Regulation; Xanthomatosis
PubMed: 28689098
DOI: 10.1016/j.atherosclerosis.2017.06.917 -
Indian Journal of Ophthalmology Apr 2018
Topics: Adult; Arcus Senilis; Cholesterol; Female; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Hypercholesterolemia
PubMed: 29582807
DOI: 10.4103/ijo.IJO_296_18 -
The American Journal of Cardiology Apr 2021Patients with homozygous familial hypercholesterolemia (HoFH) have a high risk for premature death. Supravalvular aortic stenosis (SVAS) is a common and the feature...
Patients with homozygous familial hypercholesterolemia (HoFH) have a high risk for premature death. Supravalvular aortic stenosis (SVAS) is a common and the feature lesion of the aortic root in HoFH. The relation between SVAS and the risk of premature death in patients with HoFH has not been fully investigated. The present study analysis included 97 HoFH patients with mean age of 14.7 (years) from the Genetic and Imaging of Familial Hypercholesterolemia in Han Nationality Study. During the median (±SD) follow-up 4.0 (±4.0) years, 40 (41.2%) participants had SVAS and 17 (17.5%) participants experienced death. The proportion of premature death in the non-SVAS and SVAS group was 7.0% and 32.5%, respectively. Compared with the non-SVAS group, SVAS group cumulative survival was lower in the HoFH (log-rank test, p <0.001). This result was further confirmed in the multivariable Cox regression models. After adjusting for age, sex, low density lipoprotein cholesterol (LDL_C)-year-score, lipid-lowering drugs, cardiovascular disease, and carotid artery plaque, SVAS was an independent risk factor of premature death in HoFH on the multivariate analysis (hazard ratio 4.45; 95% confidence interval, 1.10 to 18.12; p = 0.037). In conclusion, a significantly increased risk of premature death was observed in HoFH patients with SVAS. Our study emphasized the importance of careful and aggressive management in these patients when appropriate.
Topics: Adolescent; Adult; Aortic Stenosis, Supravalvular; Apolipoprotein B-100; Arcus Senilis; Carotid Stenosis; Case-Control Studies; Cause of Death; Child; Child, Preschool; Echocardiography; Female; Follow-Up Studies; Homozygote; Humans; Hyperlipoproteinemia Type II; Hypolipidemic Agents; Infant; Male; Mortality, Premature; Multivariate Analysis; Proportional Hazards Models; Proprotein Convertase 9; Receptors, LDL; Risk; Risk Factors; Xanthomatosis; Young Adult
PubMed: 33454344
DOI: 10.1016/j.amjcard.2020.12.080