Welcome to the EAS 2023 Interactive Program
The congress will officially run on CET time zone (Central European Time)
Introduction by chair (ID 1656)
O082 - VARIABILITY OF TENDON XANTHOMAS IN HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA AND THEIR RELATION WITH LIPOPROTEIN(A) (ID 900)
Abstract
Background and Aims
Tendon xanthomas (TX) are lipid deposits that appear in subjects with familial hypercholestolemia (FH) and resemble the vascular lesions of atherosclerosis. TX are used in the clinical diagnosis of FH and are associated with an increased risk of cardiovascular disease. However, there is great variability in their presentation due to mostly unknown causes. The aim of this study was to analyse the size of TX in Achilles tendons of FH participants and their relation with the lipoprotein(a) [Lp(a)].
Methods
A cross-sectional study in subjects older than 29 years and with molecular diagnosis of heterozygous FH was performed. TX was defined according to Achilles tendon maximum thickness, thresholds can be found elsewhere. A multivariate linear regression was used to predict the size of TX. Classical cardiovascular risk factors and Lp(a) were included in the analysis as explanatory variables.
Results
From the 201 participants who were included, 54.7% were females with a median age of 50.3 years. A descriptive analysis is presented in the table. An exploratory data analysis is showed in the pair plot. Using a regression analysis we demonstrate that Lp(a), LDL-Cholesterol (LDL-C), age and male sex have a positive correlation and can predict the thickness of TX, with a special emphasis on Lp(a) level (coefB 0.17, p=0.02).
Conclusions
Lp(a), LDL-C, age, and male sex can predict the thickness of TX in FH subjects. Hitherto, Lp(a) was never associated with TX size. Our findings may disclose new data on the mechanism of TX development.
O083 - FAMILIAL HYPERCHOLESTEROLEMIA IN CANADA: INVESTIGATING MANAGEMENT PATTERNS AND CLINICAL OUTCOMES FROM THE FH CANADA REGISTRY (ID 934)
Abstract
Background and Aims
Familial Hypercholesterolemia (FH) is characterized by elevated LDL-cholesterol (LDL-C) leading to premature cardiovascular disease (CVD). Despite this, FH is under-recognized and under-treated worldwide, including in Canada. The objective of this study was to investigate treatment patterns and cardiovascular outcomes of FH patients in Canada.
Methods
We created a national, prospective, multicenter registry of FH patients in Canada, and conducted a longitudinal observational study of adults with probable or definite heterozygous FH. Baseline characteristics, lipid levels, medication use and cardiovascular events rate at first clinic visit and last follow-up were analyzed.
Results
From 5253 individuals in the registry, 3737 adults (48.5% women) with FH were included in the study, with a total of 17,670 person-years of follow-up. Mean age at enrollment was 44.8±13.8 years with pretreatment LDL-C levels of 6.9±1.8 mmol/L and a CVD prevalence of 32.4%. At enrollment, 49.1% patients were taking lipid-lowering therapy (LLT). After a follow-up of 11 years, use of LLT increased to 83.3% with a mean on-treatment LDL-C at 3.6±1.9 mmol/L. Among those, 63.3% were on high-intensity statins. Despite optimization of therapy and a 49.1% LDL-C reduction between baseline and last follow-up, only 45.5% of FH patients achieved ≥50% LDL-C reduction and only 19% attained targets of LDL-C≤2.0 mmol/L. The incidence of cardiovascular events was 13.4/1000 person-years.
Conclusions
This is the largest Canadian study performed in FH patients, providing insight into clinical characteristics and current treatment status of FH patients in Canada. These data highlight existing gaps in care for FH and identify important opportunities to improve disease management.
O084 - DIAGNOSIS, TREATMENT AND CARDIOVASCULAR OUTCOMES IN HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLAEMIA: A SEX-SPECIFIC ANALYSIS (ID 1018)
Abstract
Background and Aims
Heterozygous familial hypercholesterolaemia (FH) in women is often diagnosed later and treated less aggressively compared to men. It is unknown whether these differences also apply to homozygous FH (HoFH), given its more severe clinical phenotype.
Methods
Using data from the HoFH International Clinical Collaborators (HICC) cross-sectional registry we compared age at diagnosis, prevalence of cardiovascular risk factors, lipid-lowering treatment (LLT), and atherosclerotic cardiovascular (ASCVD) outcomes in women and men with HoFH.
Results
We included 751 patients (52% women) from 38 countries. Median [Interquartile range] age at diagnosis was similar in women and men (13[6-26] and 11[5-27] yrs, p=0.85; respectively). More men than women had a smoking history (27% vs 14%, p<0.001), but there were no sex differences for other cardiovascular risk factors. There were no sex differences in the intensity and type of LLT prescribed. Prevalence of ASCVD was 44% at registry entry (table 1). Previous myocardial infarction (16% vs 8%, p<0.001) and PCI (16% vs 9%, p=0.005) were more common in men. No sex differences were observed for other ASCVD or ASCVD interventions. Additionally, age at occurrence of first cardiovascular event, including myocardial infarction, was comparable between the sexes (table 1).
Conclusions
Patients with HoFH are at very high risk of premature ASCVD. Although more men had experienced a myocardial infarction, the age at first ASCVD-event and all-cause mortality did not differ by sex, highlighting the causal role of severe LDL-hypercholesterolaemia in the pathogenesis of premature ASCVD in HoFH. This possible loss of the usual female premenopausal cardiovascular protection requires further investigation.
O085 - ACHILLES TENDON THICKNESS ASSESSED BY X-RAY PREDICTING A PATHOGENIC MUTATION IN FAMILIAL HYPERCHOLESTEROLEMIA GENE (ID 155)
Abstract
Background and Aims
The 2017 Japan Atherosclerosis Society (JAS) familial hypercholesterolemia (FH) criteria adopts a cut off value of ≥ 9 mm of Achilles tendon thickness (ATT) detected by X-ray as one of the three key items. This threshold was determined based on data assessing ATT of 36 non-FH individuals in 1977. Although the specificity of this clinical criteria is extremely high, there are substantial number of patients with FH whose ATT < 9 mm. We aimed to determine a cut off value of ATT using X-ray FH based on genetic diagnosis.
Methods
The individuals (male/female = 486/501) with full assessments of genetic analyses for FH-genes (LDLR, and PCSK9), serum lipids, and ATT detected by X-ray at Kanazawa University Hospital and National Cerebral and Cardiovascular Center Research Institute were included in this study. Receiver operating characteristic (ROC) analyses were performed to determine a better cut off point of ATT predicting a pathogenic mutation of FH.
Results
ROC analyses revealed the best cut off values of ATT as 7.6 mm for male, and 7.0 mm for female with the sensitivities and specificities of 0.83 and 0.83 for male and 0.86 and 0.85 for female, respectively. If the thresholds of ATT of 8.0/7.5 mm and 7.5/7.0 mm were applied to diagnose of male/female FH, the sensitivities/specificities predicting a pathogenic mutation of FH by the 2017 JAS FH clinical criteria would be 0.82/0.90 and 0.85/0.88, respectively.
Conclusions
The optimal cut-off value of ATT detected by X-ray is obviously lower than 9.0 mm adopted by the 2017 JAS FH clinical criteria.