Dataset Information

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

ABSTRACT: 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.

SUBMITTER: Lorca R

PROVIDER: S-EPMC7692119 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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

Lorca Rebeca R Aparicio Andrea A Cuesta-Llavona Elias E Pascual Isaac I Junco Alejandro A Hevia Sergio S Villazón Francisco F Hernandez-Vaquero Daniel D Rodríguez Reguero Jose Julian JJ Moris Cesar C Coto Eliecer E Gómez Juan J Avanzas Pablo P

Journal of clinical medicine 20201029 11

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) evolut ...[more]

PMID: 33137929

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Project description:Background Homozygous familial hypercholesterolemia (HoFH) is a rare, treatment-resistant disorder characterized by early-onset atherosclerotic and aortic valvular cardiovascular disease if left untreated. Contemporary information on HoFH in the United States is lacking, and the extent of underdiagnosis and undertreatment is uncertain. Methods and Results Data were analyzed from 67 children and adults with clinically diagnosed HoFH from the CASCADE (Cascade Screening for Awareness and Detection) FH Registry. Genetic diagnosis was confirmed in 43 patients. We used the clinical characteristics of genetically confirmed patients with HoFH to query the Family Heart Database, a US anonymized payer health database, to estimate the number of patients with similar lipid profiles in a "real-world" setting. Untreated low-density lipoprotein cholesterol levels were lower in adults than children (533 versus 776 mg/dL; P=0.001). At enrollment, atherosclerotic cardiovascular disease and supravalvular and aortic valve stenosis were present in 78.4% and 43.8% and 25.5% and 18.8% of adults and children, respectively. At most recent follow-up, despite multiple lipid-lowering treatment, low-density lipoprotein cholesterol goals were achieved in only a minority of adults and children. Query of the Family Heart Database identified 277 individuals with profiles similar to patients with genetically confirmed HoFH. Advanced lipid-lowering treatments were prescribed for 18%; 40% were on no lipid-lowering treatment; atherosclerotic cardiovascular disease was reported in 20%; familial hypercholesterolemia diagnosis was uncommon. Conclusions Only patients with the most severe HoFH phenotypes are diagnosed early. HoFH remains challenging to treat. Results from the Family Heart Database indicate HoFH is systemically underdiagnosed and undertreated. Earlier screening, aggressive lipid-lowering treatments, and guideline implementation are required to reduce disease burden in HoFH.

Project description:BackgroundLong-term control of cardiovascular risk factors after acute coronary syndrome (ACS) is the cornerstone for preventing recurrence. We investigated the extent of cardiovascular risk factor management in males and females with and without familial hypercholesterolemia (FH) 5 years after ACS.MethodsWe studied patients hospitalized for ACS between 2009 and 2017 in a Swiss multicenter prospective cohort study. FH was defined based on clinical criteria from the Dutch Lipid Clinic Network and Simon Broome definitions. Five years post-ACS, we assessed low-density lipoprotein-cholesterol (LDL-c) levels, lipid-lowering therapy (LLT), and other cardiovascular risk factors, comparing males to females with and without FH using generalized estimating equations.ResultsA total of 3139 patients were included; mean age was 61.4 years (SD, 12.1), 620 (19.8%) were female, and 747 (23.5%) had possible FH. Compared with males at 5-years post-ACS, females were more likely to not use statins (odds ratio, 1.61 [95% CI, 1.28-2.03]) and less likely to have combination LLT (odds ratio, 0.72 [95% CI, 0.55-0.93]), without difference between patients with FH and without FH. Females in both FH and non-FH groups less frequently reached LDL-c values ≤1.8 mmol/L (odds ratio, 0.78 [95% CI, 0.78-0.93]). Overall, patients with FH were more frequently on high-dose statins compared with patients without FH (51.0% versus 42.9%; P=0.001) and presented more frequently with a combination of 2 or more LLT compared with patients without FH (33.8% versus 17.7%; P<0.001), but less frequently reached LDL-c targets of ≤1.8 mmol/L (33.5% versus 44.3%; P<0.001) or ≤2.6 mmol/L (70.2% versus 78.1%; P=0.001).ConclusionsFive years after ACS, females had less intensive LLT and were less likely to reach target LDL-c levels than males, regardless of FH status. Males and females with FH had less optimal control of LDL-c despite more frequently taking high-dose statins or combination LLT compared with patients without FH. Long-term management of patients with ACS and FH, especially females, warrants optimization.

Project description:Background There is significant regional or institutional variation in the use of thrombus aspiration (TA) in patients undergoing percutaneous coronary intervention (PCI). We investigated the temporal trend in TA use and its association with clinical outcomes in acute coronary syndrome using the nationwide J-PCI (Japanese PCI) registry. Methods and Results Between 2016 and 2018, patients with acute coronary syndrome undergoing PCI (n=282 606; median age, 71.0 years; interquartile range, 62.0-79.0 years; women, 24.7%) at 1124 hospitals were stratified on the basis of whether TA was performed (TA and non-TA). The patients were subdivided according to clinical presentation (ST-segment-elevation myocardial infarction, non-ST-segment-elevation myocardial infarction, and unstable angina). Successful PCI, defined as the achievement of TIMI (Thrombolysis in Myocardial Infarction) 3 flow, and in-hospital mortality were assessed. During the study period, 83 422 patients (29.5%) underwent TA (52.9%, 23.5%, and 5.2% for ST-segment-elevation myocardial infarction, non-ST-segment-elevation myocardial infarction, and unstable angina, respectively), and the TA implementation rate remained relatively stable throughout. Patients treated with TA had higher rate of successful PCI than non-TA (98.7% versus 97.8%; P<0.001). TA was not associated with in-hospital death among patients with ST-segment-elevation myocardial infarction (adjusted odds ratio [aOR], 1.02 [95% CI, 0.94-1.12]). However, TA use was associated with higher rates of in-hospital death in patients with non-ST-segment-elevation myocardial infarction ( aOR, 1.51 [95% CI, 1.23-1.86]) or unstable angina ( aOR, 1.95 [95% CI, 1.37-2.79]). Conclusions In our retrospective analysis of the nationwide PCI registry, TA use was associated with a higher achievement of successful PCI without impairing in-hospital mortality among patients with ST-segment-elevation myocardial infarction. Nevertheless, its use should be cautioned in less-established indications (eg, non-ST-segment-elevation myocardial infarction and unstable angina).

Dataset Information

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

Publications

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

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