scholarly journals Familial Hypercholesterolemia in Premature Acute Coronary Syndrome. Insights from CholeSTEMI Registry

2020 ◽  
Vol 9 (11) ◽  
pp. 3489
Author(s):  
Rebeca Lorca ◽  
Andrea Aparicio ◽  
Elias Cuesta-Llavona ◽  
Isaac Pascual ◽  
Alejandro Junco ◽  
...  

Familial hypercholesterolemia (FH) is an underdiagnosed genetic inherited condition that may lead to premature coronary artery disease (CAD). FH has an estimated prevalence in the general population of about 1:313. However, its prevalence in patients with premature STEMI (ST-elevation myocardial infarction) has not been widely studied. This study aimed to evaluate the prevalence of FH in patients with premature STEMI. Cardiovascular risk factors, LDLc (low-density lipoprotein cholesterol) evolution, and differences between genders were also evaluated. Consecutive patients were referred for cardiac catheterization to our center due to STEMI suspicion in 2018. From the 80 patients with confirmed premature CAD (men < 55 and women < 60 years old with confirmed CAD), 56 (48 men and eight women) accepted to be NGS sequenced for the main FH genes. Clinical information and DLCN (Dutch Lipid Clinic Network) score were analyzed. Only one male patient had probable FH (6–7 points) and no one reached a clinically definite diagnosis. Genetic testing confirmed that the only patient with a DLCN score ≥6 has HF (1.8%). Smoking and high BMI the most frequent cardiovascular risk factors (>80%). Despite high doses of statins being expected to reduce LDLc levels at STEMI to current dyslipidemia guidelines LDL targets (<55 mg/dL), LDLc control levels were out of range. Although still 5.4 times higher than in general population, the prevalence of FH in premature CAD is still low (1.8%). To improve the genetic yield, genetic screening may be considered among patients with probable or definite FH according to clinical criteria. The classical cardiovascular risk factors prevalence far exceeds FH prevalence in patients with premature STEMI. LDLc control levels after STEMI were out range, despite intensive hypolipemiant treatment. These findings reinforce the need for more aggressive preventive strategies in the young and for intensive lipid-lowering therapy in secondary prevention.

PLoS ONE ◽  
2021 ◽  
Vol 16 (4) ◽  
pp. e0249923
Author(s):  
Orsolya Kiss ◽  
Mate Babity ◽  
Attila Kovacs ◽  
Judit Skopal ◽  
Hajnalka Vago ◽  
...  

The significance of cardiology screening of referees is not well established. Cardiovascular risk factors and diseases were examined in asymptomatic Hungarian elite handball referees undergoing extended screening: personal/family history, physical examination, 12-lead ECG, laboratory tests, body-composition analysis, echocardiography, and cardiopulmonary exercise testing. Holter-ECG (n = 8), blood pressure monitorization (n = 10), cardiac magnetic resonance imaging (CMR; n = 27) and computer tomography (CCT; n = 4) were also carried out if needed. We examined 100 referees (age: 29.6±7.9years, male: 64, training: 4.3±2.0 hours/week), cardiovascular risk factors were: positive medical history: 24%, overweight: 10%, obesity: 3%, dyslipidaemia: 41%. Elevated resting blood pressure was measured in 38%. Stress-ECG was positive due to ECG-changes in 16%, due to elevated exercise blood pressure in 8%. Echocardiography and/or CMR identified abnormalities in 19%. A significant number of premature ventricular contractions was found on the Holter-ECG in two cases. The CCT showed myocardial bridge or coronary plaques in one-one case. We recommended lifestyle changes in 58%, new/modified antihypertensive or lipid-lowering therapy in 5%, iron-supplementation in 22%. By our results, a high percentage of elite Hungarian handball referees had cardiovascular risk factors or diseases, which, combined with physical and psychological stress, could increase the possibility of cardiovascular events. Our study draws attention to the importance of cardiac screening in elite handball referees.


2020 ◽  
Author(s):  
Cristiana-Elena Vlad ◽  
Liliana Foia ◽  
Laura Florea ◽  
Irina-Iuliana Costache ◽  
Andreea Covic ◽  
...  

Abstract Background. Familial hypercholesterolemia (FH) is one of the most frequent and important monogenic cholesterol pathology. Traditional and nontraditional cardiovascular risk factors increase the prevalence of atherosclerotic cardiovascular disease (ASCVD) in this population. Objective. To establish the prevalence and the cardiovascular risk factors of FH population, to identify the ASCVD through the clinico-biological and imaging modifications during the 24-months follow-up.Methods. This first prospective study in the north-eastern part of Romania, carried out between October 2017-October 2019, out of 980 patients with dyslipidemia evaluated with the Dutch Lipid Network (DLCN) and Simone Broome (SM) scores, only 61 patients with DLCN score above 3 and FH possible/probably (SM score) were included.Results. The 61 FH subjects recorded a mean age of 48.46±12.53 years, with more women compared to men. Regarding the traditional cardiovascular risk factors, we identified that high blood pressure was the main factor in all patients, followed by sedentary lifestyle, obesity, smoker status, personal cardiovascular history and type 2 diabetes. The measured DLCN score recorded: “possible” FH identified in 39.4%, the “probable”FH in 45.9% and the “definite” FH in 14.7%. After the administration of the lipid-lowering agents for 24 months, TC and LDL-C levels, carotid intima-media thickness (cIMT) and ankle-brachial index (ABI) decreased and HDL-C levels increased, but without reaching the guideline goals. In addition, the high-dose of statin alone, the high-dose of statin with fenofibrate, subjects with „possible” FH, the normal values of cIMT and ABI, had a reduced time of ASCVD occurrence. Also, the high cIMT values, physical inactivity, high TC, TG and high-sensitivity C-reactive protein (hsCRP) levels were associated with an increased risk of ASCVD. Conclusions. To reduce cardiovascular risk, the FH patients need a cascade screening and a specific management. Even though it was the first observational study in the north-eastern part of Romania, further molecular genetics studies are needed to confirm the FH cases.


PLoS ONE ◽  
2021 ◽  
Vol 16 (6) ◽  
pp. e0252321
Author(s):  
Catharina Busch ◽  
Julius L. Katzmann ◽  
Claudia Jochmann ◽  
Jan Darius Unterlauft ◽  
Daniela Vollhardt ◽  
...  

Purpose Cardiovascular risk factors such as hypertension or dyslipidemia can influence the incidence and progression of diabetic retinopathy (DR) and diabetic macular edema (DME). The aim of this study is to describe the comorbidities in patients with DME. Methods Prospective, monocentric observational study. Patients presenting for the treatment of DME received laboratory and clinical examinations including 24-hour blood pressure measurement. Results Seventy-five consecutive patients were included in the study. The mean age was 61.0 ± 14.5 years, and 83% had type 2 diabetes. The mean body mass index (BMI) was 32.8 ± 6.0 kg/m2. Overweight (BMI ≥ 25 kg/m2) was present in 92% of all patients. HbA1c values were > 7.0% in 57%. Although 87% of the patients already received antihypertensive therapy, the blood pressure (BP) of 82% was still above the recommended target values of systolic < 140 mmHg and diastolic < 80 mmHg. An insufficient nocturnal fall of the systolic BP (< 10%, non-dipping or reverse dipping) was observed in 62%. In 83% of the patients the glomerular filtration rate was ≤ 90 ml/min/1.73m2. Despite 65% of the cohort already receiving lipid-lowering therapy, LDL cholesterol was above the target value of 1.4 mmol/l in 93%. All patients had at least one cardiovascular risk factor in addition to diabetes (overweight, hypertension, insufficient nocturnal BP fall, dyslipidemia, or renal dysfunction) and 86% had ≥ 3 risk factors. Conclusion DME patients are characterized by highly prevalent cardiovascular risk factors that are poorly controlled. These comorbidities reduce the prognosis and negatively influence existing DR and DME. The data reveal an important opportunity for improving patient care by interaction of the ophthalmologist with the general practitioner and internal specialists for the detection and treatment of these conditions.


2020 ◽  
Author(s):  
Cristiana-Elena Vlad ◽  
Liliana Foia ◽  
Laura Florea ◽  
Irina-Iuliana Costache ◽  
Andreea Covic ◽  
...  

Abstract Background. Familial hypercholesterolemia (FH) is one of the most frequent and important monogenic cholesterol pathologies. Traditional and nontraditional cardiovascular risk factors increase the prevalence of atherosclerotic cardiovascular disease (ASCVD) in this population. Objective. (a)To identify FH patients in the North-Eastern part of Romania and to analyze demographic, clinical and paraclinical data (b)to identify of new cardiovascular events in FH patients throughout the follow-up based on the administrated lipid lowering drugs.Methods. This first prospective study in the North-Eastern part of Romania was carried out between October 2017 and October 2019; out of 980 patients with dyslipidemia evaluated with the Dutch Lipid Network (DLCN) and Simon Broome (SM) scores, only 61 patients with DLCN score above 3 and possible/probable FH (SM score) were included.Results. The 61 FH subjects recorded a mean age of 48.5±12.5 years, with more female patients than male patients. Hypertension was the main cardiovascular risk factor for both sexes, followed by physical inactivity and obesity for the female FH group and active smoker for the male FH group. The measured DLCN score recorded: “possible” FH identified in 39.4%, “probable” FH in 45.9% and “definite” FH in 14.7%. After the administration of the lipid-lowering agents for 24 months, low-density cholesterol lipoprotein(LDL-C) levels and carotid intima-media thickness(cIMT) have decreased, while the ankle-brachial index(ABI) and high-density cholesterol lipoprotein(HDL-C) levels have increased. Also, the cIMT values over 0.9mm, total cholesterol(TC), triglyceride(TG), and high-sensitivity C-reactive protein(hsCRP) levels were associated with an increased risk of ASCVD. In addition, statins administrated in monotherapy have delayed de new cardiovascular events.Conclusions. To obtain a reduction of cardiovascular events, FH patients need cascade screening for early identification and a specific management with possible administration of monoclonal antibodies, despite the significant socio-economic barriers.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 115.1-116
Author(s):  
P. Drivelegka ◽  
L. T. H. Jacobsson ◽  
U. Lindström ◽  
K. Bengtsson ◽  
M. Dehlin

Background:Gout is associated with an increased risk of cardiovascular disease (CVD), but it is not clear whether this risk is intrinsic to gout itself or to underlying comorbidities. Although the impact of gout on CVD has been studied previously, the results have been conflicting and studies from European countries are scarce.Objectives:To investigate the risk of first-time acute coronary syndrome (ACS) in patients with incident gout in western Sweden, compared to the general population.Methods:Using data from the population-based health care database VEGA, we identified all patients with incident gout diagnosis at either primary or specialized health care units in western Sweden, in the period 2007– 2017 (20,287 cases; mean age, 65.6 years; 67.4% males). Cases regarded as incident, if they did not have any recorded diagnosis of gout in the previous seven years. For each case, up to five controls matched on age, sex, and county at the date of first gout diagnosis were identified from the census register (84,240 controls). Cases and controls with prior history of ischemic heart disease were excluded. The follow-up began at the first diagnosis of gout, and ended at the earliest of an ACS event, emigration, death, or 31 December 2017. To estimate the risk of first-time ACS, we used incident rate (IR) and univariable and multivariable Cox regression analysis with adjustments for the following cardiovascular risk factors: the diagnoses of hypertension, diabetes, hyperlipidemia, obesity, renal disease, heart failure, cardiomyopathy, psoriasis, chronic obstructive pulmonary disease, alcoholism, cancer, cerebrovascular, and atherosclerotic disease, as well as for the dispensed prescriptions of statins, anticoagulants, anti-hypertensive, anti-diabetic, anti-hyperlipidemic, anti-obesity, and vasodilator drugs.Results:The IR of first-time ACS was 9.0 events per 1,000 person-years in the gout cohort, compared to 6.3 in the control cohort. The IRs were lower for women than men, both in the gout (IR, 8.2 vs 9.4) and in the control cohort (IR, 5.0 vs 7.0). Univariable analysis showed that patients with gout have a higher risk of first-time ACS, as compared to the general population (Figure 1, Table 1), but the increased risk is largely diminished after adjustments for cardiovascular risk factors (Table 1).Table 1.Risk of first-time ACS in patients with incident gout, as compared to the general population.Unadjusted HR95% CIp-valueAdjusted HR95% CIp-valueACS Overall1.431.32-1.55<.00011.151.05-1.240.0013 Men1.351.23-1.48<.00011.121.02-1.230.0230 Women1.631.41-1.89<.00011.211.03-1.410.0207Figure 1.Event-free survival curve for patients with gout and controls during the follow-up, where event is first-time acute coronary syndrome.Conclusion:Patients with incident gout have a 43% higher risk of first-time ACS, as compared to the general population. This increased risk is largely explained by the increased occurrence of comorbidities in gout, but there is still a modestly increased risk that may be due to gout related factors. Our results underline the importance of cardiovascular risk assessment and the need for appropriate management of the underlying cardiovascular risk factors in patients with gout.Disclosure of Interests:None declared


2021 ◽  
Vol 10 (6) ◽  
pp. 1314
Author(s):  
Rebeca Lorca ◽  
Isaac Pascual ◽  
Andrea Aparicio ◽  
Alejandro Junco-Vicente ◽  
Rut Alvarez-Velasco ◽  
...  

Background: Coronary artery disease (CAD) is the most frequent cause of ST-segment elevation myocardial infarction (STEMI). Etiopathogenic and prognostic characteristics in young patients may differ from older patients and young women may present worse outcomes than men. We aimed to evaluate the clinical characteristics and prognosis of men and women with premature STEMI. Methods: A total 1404 consecutive patients were referred to our institution for emergency cardiac catheterization due to STEMI suspicion (1 January 2014–31 December 2018). Patients with confirmed premature (<55 years old in men and <60 in women) STEMI (366 patients, 83% men and 17% women) were included (359 atherothrombotic and 7 spontaneous coronary artery dissection (SCAD)). Results: Premature STEMI patients had a high prevalence of classical cardiovascular risk factors. Mean follow-up was 4.1 years (±1.75 SD). Mortality rates, re-hospitalization, and hospital stay showed no significant differences between sexes. More than 10% of women with premature STEMI suffered SCAD. There were no significant differences between sexes, neither among cholesterol levels nor in hypolipemiant therapy. The global survival rates were similar to that expected in the general population of the same sex and age in our region with a significantly higher excess of mortality at 6 years among men compared with the general population. Conclusion: Our results showed a high incidence of cardiovascular risk factors, a high prevalence of SCAD among young women, and a generally good prognosis after standardized treatment. During follow-up, 23% suffered a major cardiovascular event (MACE), without significant differences between sexes and observed survival at 1, 3, and 6 years of follow-up was 96.57% (95% CI 94.04–98.04), 95.64% (95% CI 92.87–97.35), and 94.5% (95% CI 91.12–97.66). An extra effort to prevent/delay STEMI should be invested focusing on smoking avoidance and optimal hypolipemiant treatment both in primary and secondary prevention.


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