Risk Of Premature Cardiovascular Disease Research Articles

Cardiovascular Disease and its Risk Factors in Patients with Familial Hypercholesterolemia: A Systematic Review

Objectives: Familial hypercholesterolemia (FH) leads to prolonged vascular exposure to high levels of lowdensity lipoprotein cholesterol and subsequent development of atherosclerotic lesions. This study examines additional risk factors in patients with FH and their impact on cardiovascular disease (CVD) risk. Methods: A systematic literature review identified publications describing cardiovascular risk in patients with FH (January-October 2016), extending a previous published review (2004-2015). Each article was assessed for bias by two reviewers using the modified Newcastle–Ottawa assessment scale for non-randomized studies. Additional risk factors studied included age, sex, FH mutations, and previous CVD. Results: Three new studies were identified, conducted in the Netherlands, Spain, and Brazil, and reviewed together with the 14 studies identified in the previous review. The study with the lowest bias, comparing patients with versus without FH, reported odds ratios (ORs) for coronary artery disease (CAD) of 10.3 (95% confidence interval [CI]: 7.8–13.8) and 13.2 (95% CI: 10.0–17.4) in patients treated and untreated with lipid-lowering therapy, respectively. The highest risk increases in mortality were observed in the 30–60-yr age band. Most studies found that men with FH had a ~2.5‑fold higher CVD risk compared with women, although the magnitude of the difference varied by study. Patients carrying null-mutations had a 68% higher risk of premature CVD (OR: 1.68; 95% CI: 1.10–2.40), and recurrence of cardiovascular events versus patients carrying defective-mutations. Premature CVD was identified as a risk factor for mortality (standardized mortality ratio: 1.62; 95% CI: 1.32–1.93). Conclusions: FH-related CVD risk is high, even in treated patients, and represents an important unmet medical need. Alongside classical risk factors (age, blood pressure, body mass index, smoking, lipid levels), FH-causing mutations are important for understanding FH-related CVD risk. Other parameters, such as age at which statin therapy is started, require further research.

GENETIC RESEARCHES AMONG MALAYSIAN FAMILIAL HYPERCHOLESTEROLAEMIC POPULATION

ABSTRACT Background: Familial hypercholesterolaemia (FH) is one of the most frequent inherited metabolic disorders that can lead to a risk of premature cardiovascular disease. Publications on FH are mainly from western patients as there is little research on Asians, including Malaysians. The aim of this review is to provide an up-to- date information on Malaysian studies on FH genotyping and its relation to the phenotype of the affected patients. Method: A search was conducted for data from online databases on FH in Malaysia. Results: The mutation spectrum for FH among Malaysian patients was extremely broad. The gene variants were located mainly in the low-density lipoprotein receptor (LDLR) and apolipoprotein B-100 (APOB-100) genes rather than in the proprotein convertase subtilisin kexin type 9 (PCSK9) gene. The exon 9 and 14 were the hotspots in the LDLR gene. The most frequent mutation was p.Cys255Ser, at 12.5%, followed by p.Arg471Gly, at 11%, and the most common single nucleotide polymorphism (SNP) was c.1060+7 T>C at 11.7%. The LDLR gene variants were more common compared to the APOB-100 gene variants, while variants in the PCSK9 gene were very few. Phenotype-genotype associations were identified. Subjects with LDLR and APOB-100 genes mutations had a higher frequency of cardiovascular disease, a family history of hyperlipidaemia and tendon xanthoma and a higher low-density lipoprotein cholesterol (LDL-C) level than non-carriers. Conclusion: Research on Malaysian familial hypercholesterolaemic patients by individual groups is encouraging. However, more extensive molecular studies on FH on a national scale, with a screening of the disease-causing mutations together with a comprehensive genotype-phenotype association study, can lead to a better outcome for patients with the disease.

Identification of familial hypercholesterolemia in patients with myocardial infarction: A Chinese cohort study

Familial hypercholesterolemia (FH) is marked by an elevated plasma cholesterol and risk of premature cardiovascular disease. An increased burden of FH is being realized. To provide data on FH in Chinese patients with myocardial infarction (MI) and its potential contribution to early MI. A total of 1843 consecutive patients undergoing coronary angiography with their first MI were recruited. The clinical FH was diagnosed using the Dutch Lipid Clinic Network criteria. The prevalence and clinical features of FH and the relationship of FH to risk of early MI were investigated. Of the 1843 patients, 48.2% were detected as premature MI (pMI, the onset age ≤55 years for men, ≤60 years for women). The prevalence of definite/probable FH reached 3.9% (7.1% in pMI and 0.9% in non-pMI). Furthermore, we found that the risk of pMI was significantly elevated in both definite/probable FH (vs. unlikely FH, odds ratio, 5.05 [1.10-23.23]) and possible FH (vs unlikely FH, odds ratio, 2.65 [1.22-5.77]), independently from classical risk factors and medications. Additionally, patients with definite/probable FH occurred 10years younger than those with unlikely FH in the onset age of MI (48.63±1.20 vs 58.35±0.30years, P<.001). When considered in subgroup of pMI or non-pMI, an early onset of MI was also observed in definite/probable FH (pMI, 45.83±0.89 vs 47.87±0.34years; non-pMI, 60.75±1.96 vs 65.07±0.22years; both P<.05). The prevalence of FH among Chinese patients with MI appeared common, particularly among those with pMI. The phenotypic FH might significantly promote the early onset of MI.

Risk of Premature Cardiovascular Disease vs the Number of Premature Cardiovascular Events.

Risk of Premature Cardiovascular Disease vs the Number of Premature Cardiovascular Events.

Systemic lupus erythematosus.

Systemic lupus erythematosus (SLE) is an autoimmune disease that can affect many organs, including the skin, joints, the central nervous system and the kidneys. Women of childbearing age and certain racial groups are typically predisposed to developing the condition. Rare, inherited, single-gene complement deficiencies are strongly associated with SLE, but the disease is inherited in a polygenic manner in most patients. Genetic interactions with environmental factors, particularly UV light exposure, Epstein-Barr virus infection and hormonal factors, might initiate the disease, resulting in immune dysregulation at the level of cytokines, T cells, B cells and macrophages. Diagnosis is primarily clinical and remains challenging because of the heterogeneity of SLE. Classification criteria have aided clinical trials, but, despite this, only one drug (that is, belimumab) has been approved for use in SLE in the past 60 years. The 10-year mortality has improved and toxic adverse effects of older medications such as cyclophosphamide and glucocorticoids have been partially offset by newer drugs such as mycophenolate mofetil and glucocorticoid-sparing regimes. However, further improvements have been hampered by the adverse effects of renal and neuropsychiatric involvement and late diagnosis. Adding to this burden is the increased risk of premature cardiovascular disease in SLE together with the risk of infection made worse by immunosuppressive therapy. Challenges remain with treatment-resistant disease and symptoms such as fatigue. Newer therapies may bring hope of better outcomes, and the refinement to stem cell and genetic techniques might offer a cure in the future.

Cardiovascular Disease Risk is Only Elevated in Hypertensive, Formerly Preeclamptic Women

(BJOG. 2015;122(8):1092–1100) Preeclampsia (PE) complicates 5% to 8% of all pregnancies and is associated with an increased risk for premature cardiovascular disease (CVD) later in life. Patients with a history of PE have a 2-fold to 7-fold risk of developing ischemic cardiac disease compared with healthy controls, depending on gestational age at delivery, and about a 4-fold risk of developing chronic hypertension within 15 years after pregnancy. Although it is unknown whether PE itself increases the risk of CVD independently or through risk factors associated with both PE and CVD, patients with a history of PE tend to exhibit components of the metabolic syndrome compared with patients with a history of uncomplicated pregnancy. Quantifying person-specific CVD risk could be useful in counseling these patients.

Monocyte exosomes induce adhesion molecules and cytokines via activation of NF-κB in endothelial cells.

HIV-infected individuals have activated monocytes with an IFNα phenotype and elevated levels of circulating LPS. These individuals also have a risk of premature cardiovascular disease. The effect of activated monocyte exosomes (Exos) on endothelial cells is unknown. To determine whether Exos from immune-activated monocytes could alter endothelial cell expression and contribute to monocyte/macrophage transmigration and adhesion, we isolated Exos from monocytes stimulated with IFNα, LPS, or both (I/L). We show that monocyte Exos contain different inflammatory microRNA cargo depending on stimulation. When LPS Exos or I/L Exos were added to HUVECs, we found a significant increase in adhesion molecule ICAM-1, chemokine ligand (CCL)-2, and cytokine IL-6 mRNAs and proteins compared with cells treated with IFNα Exos or Exos derived from unstimulated monocytes. Inhibition of transcription factor NF-κB, a common inflammatory cytokine pathway, prevented induction of CCL2, IL6, and ICAM1 Inhibition of TLR4 resulted in differential blockage of the targets. Our results demonstrate for the first time that primary human monocyte Exos enter endothelial cells and cause dysfunction via the TLR4 and NF-κB pathways, which may contribute to heart disease in HIV infection and other diseases involving chronic immune activation.-Tang, N., Sun, B., Gupta, A., Rempel, H., Pulliam, L. Monocyte exosomes induce adhesion molecules and cytokines via activation of NF-κB in endothelial cells.

Triglyceride-Rich Lipoproteins and Remnants: Targets for Therapy?

It is now evident that elevated circulating levels of triglycerides in the non-fasting state, a marker for triglyceride (TG)-rich remnant particles, are associated with increased risk of premature cardiovascular disease (CVD). Recent findings from basic and clinical studies have begun to elucidate the mechanisms that contribute to the atherogenicity of these apoB-containing particles. Here, we review current knowledge of the formation, intravascular remodelling and catabolism of TG-rich lipoproteins and highlight (i) the pivotal players involved in this process, including lipoprotein lipase, glycosylphosphatidylinositol HDL binding protein 1 (GPIHBP1), apolipoprotein (apo) C-II, apoC-III, angiopoietin-like protein (ANGPTL) 3, 4 and 8, apoA-V and cholesteryl ester transfer protein; (ii) key determinants of triglyceride (TG) levels and notably rates of production of very-low-density lipoprotein 1 (VLDL1) particles; and (iii) the mechanisms which underlie the atherogenicity of remnant particles. Finally, we emphasise the polygenic nature of moderate hypertriglyceridemia and briefly discuss modalities for its clinical management. Several new therapeutic strategies to attenuate hypertriglyceridemia have appeared recently, among which those targeted to apoC-III appear to hold considerable promise.

Are There Differences In The Perceived Health-Related Quality Of Life Between Children At Risk For Premature Cardiovascular Disease and Parents?

Are There Differences In The Perceived Health-Related Quality Of Life Between Children At Risk For Premature Cardiovascular Disease and Parents?

Preeclampsia and cardiovascular disease risk assessment - Do arterial stiffness and atherosclerosis uncover increased risk ten years after delivery?

Epidemiological studies associate preeclampsia with increased risk of premature cardiovascular disease (CVD) later in life. This study aims to make a comprehensive CVD risk assessment comparing women with previous preeclamptic pregnancies to women with previous normotensive pregnancies 10years after index pregnancy. A nested, matched, observational cohort study. Markers of arterial stiffness, aortic pulse wave velocity (aPWV) and augmentation index (AIx-75), and markers of atherosclerosis, carotid intima-media thickness (cIMT) and carotid plaque presence. Traditional CVD risk factors and 10-year and 30-year Framingham CVD risk scores were also assessed. Women were included from April 2014 to October 2014 at a tertiary referral hospital in Denmark. Twenty-one exposed women with a history of preeclampsia and 21 unexposed with a history of normotensive pregnancies were included. Ten years after delivery, significantly more exposed women suffered from hypertension and received antihypertensive treatment and significantly more fulfilled the hypertension-definition at screening. Previously preeclamptic women also tended to have more unfavorable CVD risk estimates. The Framingham risk scores seemed to extend the unfavorable CVD risk. The exposed women tended to have a higher aPWV compared to unexposed women, (P=0.057). No differences were shown in the other examined arteriosclerotic or atherosclerotic variables. Ten years after delivery, we found increased risk of hypertension and trend toward unfavorable CVD risk profile in 40-year-old previously preeclamptic women. However, arterial stiffness and atherosclerosis did not uncover any additional CVD risk information at this time point.

Pre-eclampsia and Cardiovascular Disease Risk Assessment in Women.

The underlying contributors of many cardiovascular events are often present decades before the onset of clinical symptoms, and the presence of risk factors in early life significantly influences risk of premature cardiovascular disease (CVD). The considerable burden of CVD in women and on health care resources necessitates an emphasis on prevention and early risk screening in women, before the development of the disease itself. The 2011 update to the American Heart Association's Effectiveness-Based Guidelines for the prevention of CVD acknowledges the contribution of the common pregnancy-related medical complications to a woman's cardiovascular risk, identifying pre-eclampsia (PE), gestational hypertension, and gestational diabetes mellitus as risk factors for heart disease and stroke. The aims of this review are to examine risk factors in young women and their role in the development of premature CVD, with particular attention paid to PE as a marker of a woman's cardiovascular risk. Current screening practices will be discussed, as will their influences on identifying and reducing cardiovascular risk and subsequent disease in younger women.

Familial Hypercholesterolemia in Asian Populations.

Familial hypercholesterolemia (FH) is the most common autosomal disorder characterized by an elevated low-density lipoprotein-cholesterol level and a high risk of premature cardiovascular disease. In this review, we summarize information on FH studies in Asian countries, focusing on mean cholesterol level, FH frequency, diagnostic criteria, genotypes, and clinical care of FH patients in Asian populations. Compared with Western countries, most Asian countries had lower mean cholesterol levels, with a significant variation between different countries. In the limited studies reported, a frequency of 1/900 was reported in Hokuriku district, Japan in 1977 and a frequency of 1/85 among Christian Lebanese in 1979. Recently, a population study in China reported frequencies of 0.47% and 0.28%. However, the different FH frequencies reported were based on different diagnostic criteria. Of 28 publications from 16 Asian countries or regions, 14 used self-defined FH criteria. Only one specific guideline for FH was available, which was developed by Japanese scientists. Six Asian countries joined the Make Early Diagnosis to Prevent Early Deaths program in the late 1990s, and the estimated diagnosis rates of FH ranged from 3% to 10% in these countries. A more recent study explored the awareness, knowledge, and perception of FH among practitioners in Japan, Korea, and Taiwan. The study found that the correct rates of these FH-related questions were low and concluded that lack of country-specific criteria and guidelines may contribute to the lack of FH knowledge in the present survey. More attention and resources should be focused on raising awareness, improving care, and increasing FH research in Asian populations.

Abstract 17184: Achievement Of LDL-cholesterol Reduction Targets is Associated With Reduced Cardiovascular Disease Risk Among Patients With Familial Hypercholesterolemia in a Large Electronic Medical Record Database

Introduction: Heterozygous familial hypercholesterolemia (FH) is common but under-recognized, with an estimated prevalence of 1:200-1:500 and an associated high risk of premature cardiovascular disease (CVD). Little is known regarding the association between change in low-density lipoprotein cholesterol (LDL-C) and long-term CVD risk in FH patients. We hypothesized that FH patients who achieved LDL-C &lt; 100 mg/dL or reduction ≥50% post-statin initiation would have reduced risk of non-fatal myocardial infarction (MI) or revascularization. Methods: Using Dutch Lipid Network criteria components, 174 “probable” and 125 “definite” FH patients with LDL-C measurements available before and after statin initiation were identified in the Vanderbilt de-identified electronic medical records (EMR) Synthetic Derivative database, 1996-2014. First non-fatal MI or revascularization was identified via validated EMR algorithm with positive predictive value=92%. Hazard ratios (HR) and 95% confidence intervals (CI) were obtained from Cox regression models in relation to LDL-C levels (≥ vs. &lt;50% reduction or &lt; vs. &gt;100 mg/dL post-statin), adjusted for age, race, sex, blood pressure, smoking, and body mass index. Results: Mean (+/- SD) LDL-C levels prior to initiation of statin therapy were 207 (+/- 31) for probable and 304 (+/- 124) mg/dL for definite FH patients. Similar proportions of patients attained ≥50% reduction in LDL-C after statin initiation in both groups (24.1% and 26.4%), while 22.4% achieved LDL-C &lt; 100 mg/dL in the probable group compared to only 4.8% in the definite group. Over median follow-up of 5.4 years, 34 probable and 19 definite FH patients experienced non-fatal MI or revascularization. The HR (95% CI) among those with post-statin LDL-C &lt; 100 vs &gt;100 mg/dL was 0.59 (0.23-1.52) overall, with no evidence of effect modification by probable/definite FH status (likelihood ratio test (LRT) p-value=0.58). A similar pattern was observed for LDL-C change ≥50% vs &lt;50% (HR (95% CI) 0.58 (0.24-1.38), LRT p-value=0.44). Conclusions: In this small sample of FH patients, lowering LDL-C to &lt;100 mg/dL suggests a reduction in CVD risk, but few attained this LDL-C target. These results warrant further research in larger populations of this understudied condition.

Abstract 17086: Alirocumab LDL-C-Lowering Efficacy in Patients With Moderate CKD

Background: Patients with chronic kidney disease (CKD) are at increased risk of premature cardiovascular disease. Many of these patients require adjuvant lipid-lowering therapy because of dosing restrictions of some statins in patients with CKD. Objective: To determine LDL-C lowering efficacy and safety of the PCSK9 inhibitor alirocumab (ALI) in patients with hypercholesterolemia and with or without moderate CKD. Methods: This analysis included data from 10 ODYSSEY Phase 3 trials. Moderate CKD was defined as glomerular filtration rate 30-59 mL/min/1.73m 2 . LONG TERM and HIGH FH (n=2448) compared ALI 150 mg every two wks (Q2W) vs placebo. The remaining 6 trials (n=2535) evaluated ALI 75 mg Q2W vs placebo/ezetimibe, with increase to ALI 150 mg Q2W at wk 12 if LDL-C was ≥70 or ≥100 mg/dL at wk 8 depending on CV risk. Patients received stable background statin ± other LLT, except in ALTERNATIVE and MONO (no statin) and COMBO II (statin but no other LLT). Results: Moderate CKD at baseline was present in 481/4983 (9.7%) of patients. Mean baseline LDL-C levels of patients with and without moderate CKD were 109.6 and 127.8 mg/dL, respectively, and 96.9% and 92.7% were receiving a statin. Overall, having moderate CKD did not impact the LDL-C lowering efficacy of ALI (Figure). The smaller LDL-C reduction (vs other studies) seen in alirocumab-treated patients with moderate CKD in the ALTERNATIVE study may be related to low patient number. Adverse events (AEs) were reported by 79.0% ALI vs 81.1% control patients with moderate CKD and 74.7% ALI vs 74.5% control patients without. AEs led to discontinuation in 10.0% ALI vs 8.2% control patients with moderate CKD and 6.0% ALI and 6.6% control patients without. Conclusions: ALI consistently lowered LDL-C levels vs control regardless of baseline moderate CKD status. There was no significant difference in % AEs between patients with and without moderate CKD and a numerically higher rate of discontinuations due to AEs in patients with moderate CKD.

Carotid Plaques Correlates in Patients With Familial Hypercholesterolemia.

Patients with familial hypercholesterolemia (FH) are at increased risk of premature cardiovascular disease. We compared factors associated with the presence of carotid plaques and carotid intima-media thickness (cIMT), markers of subclinical atherosclerosis, in 241 patients with FH (98, 40.7% men; mean age 41 ± 18.4 years). Patients with FH having carotid plaques (36.5%) had mean age, apolipoprotein (apo) B, glucose, apoA1, systolic blood pressure (SBP) and diastolic BP, waist/hip ratio (WHR), and body mass index higher than patients without plaques. Logistic regression revealed that apoB (odds ratio [OR] per 1 unit change 1.03,P= .005), high-density lipoprotein cholesterol (HDL-C; OR per 1 standard deviation [SD] change 0.59,P= .015), and non-HDL-C (OR per 1SD change 1.53,P= .04) were significantly associated with the presence of plaques. The cIMT correlated with obesity parameters, BP, apoB, glucose, high-sensitivity C-reactive protein, creatinine, γ-glutamyl transpeptidase, and alanine transaminase (P< .001). Regression analysis revealed that cIMT was significantly associated with apoB, SBP, and WHR. These results confirm the role of apoB-containing lipoproteins and low HDL-C with the presence of carotid plaques and apoB, BP, and WHR with cIMT.

Development of Cardiovascular Quality Indicators for Rheumatoid Arthritis: Results from an International Expert Panel Using a Novel Online Process

Patients with rheumatoid arthritis (RA) have a high risk of premature cardiovascular disease (CVD). We developed CVD quality indicators (QI) for screening and use in rheumatology clinics. A systematic review was conducted of the literature on CVD risk reduction in RA and the general population. Based on the best practices identified from this review, a draft set of 12 candidate QI were presented to a Canadian panel of rheumatologists and cardiologists (n = 6) from 3 academic centers to achieve consensus on the QI specifications. The resulting 11 QI were then evaluated by an online modified-Delphi panel of multidisciplinary health professionals and patients (n = 43) to determine their relevance, validity, and feasibility in 3 rounds of online voting and threaded discussion using a modified RAND/University of California, Los Angeles Appropriateness Methodology. Response rates for the online panel were 86%. All 11 QI were rated as highly relevant, valid, and feasible (median rating ≥ 7 on a 1-9 scale), with no significant disagreement. The final QI set addresses the following themes: communication to primary care about increased CV risk in RA; CV risk assessment; defining smoking status and providing cessation counseling; screening and addressing hypertension, dyslipidemia, and diabetes; exercise recommendations; body mass index screening and lifestyle counseling; minimizing corticosteroid use; and communicating to patients at high risk of CVD about the risks/benefits of nonsteroidal antiinflammatory drugs. Eleven QI for CVD care in patients with RA have been developed and are rated as highly relevant, valid, and feasible by an international multidisciplinary panel.

High risk vascular fingerprint in patients treated with cisplatin-based chemotherapy for testicular cancer.

e15556 Background: Metastatic TC (mTC) can be cured with cisplatin-based chemotherapy (CT). This comes at the price of increased risk for premature cardiovascular disease (CVD). We investigated ris...

Increased Mean Platelet Volume in Familial Hypercholesterolemia.

Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism and increases the risk of premature cardiovascular diseases. In patients with FH, platelet function may be activated; however, the extent of this activation and its etiology are unclear. We aimed to evaluate the mean platelet volume (MPV), a marker of platelet activation, in patients with FH. The study group consisted of 164 patients with FH and 160 control patients. Controls were matched for age, gender, hypertension, and smoking. The MPV was significantly higher in patients with FH than in controls (9.2 ± 0.4 vs 7.9 ± 0.6 fL, respectively; P < .001). Platelet count was significantly lower among patients with FH when compared to control patients (259 ± 51 vs 272 ± 56 × 10(3)/L, respectively; P = .03). In linear regression analysis, MPV was independently associated only with total cholesterol (β = .6, 95% confidence interval: 0.004-0.008, P < .001). We have shown that MPV was increased in patients with FH and that it was independently associated with total cholesterol level.

Cardiovascular disease in adult survivors of childhood cancer.

Treatment advances have increased survival in children with cancer, but subclinical, progressive, irreversible, and sometimes fatal treatment-related cardiovascular effects may appear years later. Cardio-oncologists have identified promising preventive and treatment strategies. Dexrazoxane provides long-term cardioprotection from doxorubicin-associated cardiotoxicity without compromising the efficacy of anticancer treatment. Continuous infusion of doxorubicin is as effective as bolus administration in leukemia treatment, but no evidence has indicated that it provides long-term cardioprotection; continuous infusions should be eliminated from pediatric cancer treatment. Angiotensin-converting enzyme inhibitors can delay the progression of subclinical and clinical cardiotoxicity. All survivors, regardless of whether they were treated with anthracyclines or radiation, should be monitored for systemic inflammation and the risk of premature cardiovascular disease. Echocardiographic screening must be supplemented with screening for biomarkers of cardiotoxicity and perhaps by identification of genetic susceptibilities to cardiovascular diseases; optimal strategies need to be identified. The health burden related to cancer treatment will increase as this population expands and ages.

Molecular-genetic aspects of familial hypercholesterolemia.

Familial hypercholesterolemia (FH) is the world's most abundant and the most common heritable disorder of lipid metabolism. The prevalence of the disease in general population is 1:500. Therefore the approximate number of FH patients all over the world is 14 million. From the genetic point of view the disease originates as a result of mutations in genes affecting the processing of LDL particles from circulation, resulting in an increase in LDL cholesterol and hence total cholesterol. These are mutations in genes encoding LDL receptor, apolipoprotein B, proprotein convertase subtilisin/kexin 9 and LDL receptor adaptor protein 1. Cholesterol depositing in tissues and blood vessels of individuals creates tendon xanthoma, xanthelesma and arcus lipoides cornae. Due to the increased deposition of cholesterol in blood vessels, atherosclerosis process is accelerated, what leads to a significantly higher risk of premature cardiovascular diseases. Therefore, early clinical diagnosis confirmed by the DNA analysis, and effective treatment are crucial to reduce the mortality and high risk of premature atherosclerotic complications.