Familial Hypercholesterolaemia in a Young Female Presenting with Xanthelasma: Clinical Management, Family Screening, and Applicability of ESC Guidelines in Low-Resource Settings
Hasara KULATUNGA
Familial Hypercholesterolaemia (FH) is an autosomal dominant lipid disorder associated with lifelong elevated LDL cholesterol and premature atherosclerotic cardiovascular disease (ASCVD). Recognition remains low in South Asia despite high cardiovascular risk. A 29-year-old Sri Lankan garment-factory worker presented with bilateral xanthelasma and a markedly elevated LDL-cholesterol level, raising suspicion of FH. Her socioeconomic and occupational constraints highlighted the need for practical, personalised management within a lower-middle-income healthcare systemDiagnosis was guided by the ESC/EAS dyslipidaemia guidelines and Dutch Lipid Clinic Network criteria, consistent with probable FH. Given her reproductive age, a culturally sensitive sexual and contraceptive history was obtained prior to initiating high-intensity statin therapy, recognising taboos surrounding premarital sexual activity in the region. Cascade screening was arranged for her three younger sisters. A personalised lifestyle plan was developed to accommodate her 12-hour workdays, seven-day work weeks, and limited capacity for structured exercise. Recommendations included walking to work, carrying home-prepared meals for breakfast and lunch and avoiding workplace snacks.Culturally sensitive reproductive counselling is essential before statin initiation. Personalised lifestyle plans must reflect real socioeconomic and occupational barriers. Strengthening cascade screening and improving access to second-line agents could enhance FH management. Establishing national FH registries and developing cost-effective treatment pathways is essentialIn resource-limited settings, high-intensity statins remain the most practical first-line therapy for FH. Recognising xanthelasma as a clinical marker facilitates early diagnosis. Creative lifestyle interventions aligned with patient realities can significantly complement pharmacotherapy.This case illustrates effective, context-appropriate application of ESC FH guidelines through early clinical recognition, sensitive reproductive counselling, high-dose statin therapy, and family screening. It demonstrates how personalised care can meaningfully reduce long-term ASCVD risk even when advanced therapies are inaccessible.
Impact of LDL-C point of care testing (POCT) on reaching the primary cardiovascular target and patient compliance in general practice
Maria ZAMPARELLA
Low-Density Lipoprotein Cholesterol (LDL-C) hypercholesterolemia is a critical modifiable cardiovascular (CV) risk factor. European Society of Cardiology guidelines stress the importance of timely CV risk identification (ESC-SCORE2) and rapid achievement of the LDL-C therapeutic target, especially in apparently healthy individuals aged 40–69. However, therapeutic inertia and poor patient compliance remain major barriers in primary care.To evaluate the effectiveness of a proactive CV risk management protocol in general practice, integrating immediate LDL-C measurement via capillary POCT. The primary objective was to increase the percentage of at-risk patients (aged 50–69) achieving the ESC-SCORE2 LDL-C target. The secondary goal was to quantify the specific role of POCT in reducing physician inertia and optimizing patient adherence compared to conventional venous blood sampling.230 apparently healthy patients (50–69 years), identified from electronic records as not at target LDL-C level, were enrolled. After an initial counseling session on lifestyle, they were invited to monitor their lipid profile after 6 months.At follow-up, only 95 patients (41.3%, Group A) completed the standard central laboratory monitoring, which showed no statistically significant change in mean LDL-C. Non-compliant 135 patients (Group B) were recalled for immediate metabolic parameter reassessment using capillary POCT in the medical office. 105 (77.8%) adhered to this invitation. A significant increase in monitoring adherence was observed (POCT Adherence = 77.8% vs. Standard Adherence = 41.3%). The mean LDL-C levels in this group did not show a significant variation compared to baseline. However, following the immediate POCT feedback, 25% of these patients immediately started lipid-lowering therapy or intensified lifestyle counseling.CV risk management protocol integrating immediate POCT measurement significantly improved patient compliance with reassessment, nearly doubling adherence (77.8% vs. 41.3%) compared to the conventional monitoring pathway. This highlights POCT as a valuable proactive healthcare tool for reducing testing inertia and re-engaging non-compliant patients.Nevertheless, the lack of statistically significant changes in mean LDL-C levels in both groups suggests that monitoring alone (standard or POCT), without immediate triage and initiation or intensification of pharmacological therapy, is insufficient for effectively and rapidly achieving the primary prevention ESC-SCORE2 targets.
Cumulative effects of the components of dyslipidemia on Incidence of Cardiovascular Diseases in Korean Young Adults: A Nationwide Cohort Study
Yang-Hyun KIM
Lipid abnormalities act as independent risk factors for CVD in young adults remains a matter of debate.To study the cumulative effect of the components of dyslipidemia on incident cardiovascular diseases in young Korean adults.Young adults (n =1,335,776; 20~39-years-old) who participated in the national health examinations for 4 consecutive years from 2009 to 2013 were identified in a nationwide population-based cohort in Korea. We calculated the cumulative exposure score (CES, range: 0–4) of dyslipidemia components from the four consecutive health examinations, based on the presence of high total cholesterol (TC ≥240 mg/dL), high triglycerides (TG ≥200 mg/dL), elevated low-density lipoprotein cholesterol (LDL-C ≥160 mg/dL), and reduced high-density lipoprotein cholesterol (HDL-C <40 mg/dL). Hazard ratio (HR) and 95% confidence interval (CI) for incident CVD, MI, and ischemic stroke were analyzed using the multivariable Cox proportional-hazards model according to the CES of the components of dyslipidemia.All four components of dyslipidemia showed a dose-response relationship with CES in both CVD and MI. MI was higher in patients with high TC CES4 (HR: 2.38); high LDL-C CES4 (HR: 2.39); high TG CES4 (HR: 1.50); and low HDL-C CES4 (HR: 1.35). CVD was higher in patients with high TC CES4 (HR:1.87); high LDL-C levels, CES 4 (HR: 1.85); high TG CES 4 (HR: 1.37); and low HDL-C CES 4 (HR:1.28). For ischemic stroke, the association was attenuated, but low HDL and high TG showed increased risks among men aged 30–39 years (high TG CES 2 and CES 3; low HDL-C CES 3). Increased risks were also found in women aged 30–39 years (high TG CES 4) and 20–29 years (TG CES 3).These findings suggest that the relationship between lipid composition and cardiovascular disease risk may vary by age and sex.However, high triglycerides and low HDL-C may deserve attention in women. These findings suggest that the relationship between lipid composition and cardiovascular disease risk may vary by age and sex.In young adults, cumulative exposure to dyslipidemia is significantly associated with CVD risk in an age- and sex-specific manner.
Dictating diet or offering liberty? The Triglyceride-Glucose index as a practical tool for shared decision-making in primary care diabetes management
Ekin DIKMEN
The principle of ‘’Liberty’’ in family medicine implies respecting patients’ autonomy to make informed decisions about their own health. However, rigid and generic dietary restrictions often perceived as a loss of autonomy by patients with Type 2 Diabetes. To empower patients, clinicians need objective data to offer a ‘’menu of effective options’’ rather than a single strict prescription.This study aims to evaluate how specific, patient-selected lifestyle modifications (e.g., choice of cooking fat, sugar restriction, exercise frequency) independently impact insulin resistance using the Triglyceride-Glucose index. The goal is to validate Triglyceride-Glucose index as a feedback tool that enables shared decision-making.A cross-sectional study was conducted with 252 diabetic patients in a training hospital setting (Nov 2024–Apr 2025). Instead of a global compliance score alone, individual dietary habits of the patients regarding the Mediterranean diet and physical activity frequency were analyzed individually. Stepwise linear regression was used to quantify the "metabolic return" of each specific lifestyle choice on the Triglyceride-Glucose index.The analysis revealed that patients do not need to change everything at once to see results. The most potent ‘’options’’ for lowering the Triglyceride-Glucose index were identified as: (1) Using olive oil as the primary fat source (β= -0.48), (2) Avoiding sugary beverages, and (3) Exercising ≥3 days/week. Patients adopting these specific choices achieved a Triglyceride-Glucose value significantly below the identified cut-off of 8.97, regardless of other factors.These findings challenge the traditional ‘’all-or-nothing’’ approach to dietary compliance. The strong association between healthy habits and improved Triglyceride-Glucose index indicates that prioritization of high-yield changes such as olive oil consumption is clinically more effective than generic advice.The Triglyceride-Glucose index allows family physicians to move from ‘’dictating restrictions’’ to offering ‘’effective dietary habits’’. By demonstrating that specific actions-like switching to olive oil or walking 3 days a week-can independently reset metabolic risk (Triglyceride-Glucose index: <8.97), we empower patients to exercise their liberty in choosing the lifestyle modifications they can sustain. This fosters a therapeutic alliance based on partnership rather than compliance.
Evolution of Hypolipidemic Drug Consumption in France from 2012 to 2022: Impact of European Society of Cardiology Guidelines
David DE BANDT
The use of hypolipidemic drugs in cardiovascular prevention has evolved in France over the past decade. The European Society of Cardiology (ESC) issued updated guidelines on dyslipidaemia in 2019, introducing stricter LDL-cholesterol targets. This study assessed the impact of the 2019 ESC guidelines for the management of dyslipidaemias on hypolipidemic drugs sales.The objective is to understand the kinetics of hypolipidemic drug sales over the past decade in France and to identify the factors influencing these sales. More broadly, this study is part of a wider effort to understand the impact of clinical guidelines on drug sales. A secondary objective is to understand the public expenditure generated by hypolipidemic drug sales in order to better control public health spending.This ecological study reviewed hypolipidemic drug sales in France from January 2012 to December 2022 using the Medic’AM database. For each class of hypolipidemic drugs, the monthly average of defined daily dose per thousand inhabitants per day (DDD/TID) was calculated. Autoregressive model analysed sales trends prior and after ESC guidelines publication date.Average monthly sale of hypolipidemic drugs decreased from 110.139 in 2012 to 97.297 DDD/TID in 2018. Following the publication of the 2019 ESC guidelines, a significant reversal of this trend was observed, reaching 123.506 DDD/TID in 2022, representing an excess of 788.823 DDD/TID sold. Yearly associated healthcare expenses decreased from 2012 to 2018, then increased from 699.739 million euros to 830.004 million euros in 2022.After the publication of the 2019 ESC guidelines for the management of hyperlipidaemias, an increase in hypolipidemic drug consumption was observed in France, particularly for atorvastatin and ezetimibe. This trend may have been driven by multiple factors, such as public health policies, practitioners’ prescribing habits, patients’ perceptions, or industrial lobbying. Healthcare costs have risen, particularly due to the increased sales of ezetimibe, which is more expensive third-line treatment.The 2019 ESC guidelines for the management of hyperlipidaemias are associated with an increase in hypolipidemic drug consumption and related costs in France. Multiple co-factors could be contributing to this rise. Practice-based studies are needed to better understand the determinants of the increase in prescriptions.
STRIKE LDL : Systematic review Targeting Recommendation In young adults for Knowledge on Early LDL screening
Marion GOUTTE
Cardiovascular diseases remain a leading cause of global mortality, largely driven by modifiable risk factors. Although prevention is central to primary care, most cardiovascular risk assessment tools, such as SCORE2, are not validated before 40 years, despite evidence that atherosclerosis begins much earlier. In clinical practice, lipid testing is frequently performed in young adults despite the absence of clear guidelines. This discrepancy raises key questions in general practice regarding screening relevance, clinical benefit, and quaternary prevention.To identify and synthesize international recommendations on LDL cholesterol testing for primary prevention in healthy adults aged 18 to 40 years.A systematic literature review was conducted following PRISMA guidelines. International recommendations in English or French addressing dyslipidemia screening were included. Data extraction focused on target populations, screening criteria, risk factors, and assessment tools. The review protocol was registered on PROSPERO.Twenty-six recommendations published between 2008 and 2023 were analyzed. More than one quarter (26.9%) did not mention individuals under 40 years. Only 30.8% recommended LDL testing in individuals without risk factors, while 69.2% supported testing in the presence of risk factors or comorbidities, with considerable variability in criteria. Two recommendations, including that of the European Society of Cardiology, explicitly discouraged testing in the absence of identified risks. Only 7.7% defined a “healthy” population, and 34.6% proposed a risk score adapted to this age group.Strengths include rigorous methodology and international scope, while heterogeneity and variable guideline quality limit direct comparisons. Consistent with prior reviews, this heterogeneity reflects both limited evidence and uncertainty about long-term benefits of early screening in primary care.Recommandations on LDL testing in young adults are fragmented and poorly adapted to general practice. This review supports a pragmatic, ethical, and targeted approach to LDL testing to strengthen early cardiovascular prevention among young adults.
Disparities in Lipid Lowering Therapy Uptake in High Risk Primary Prevention Patients vs Secondary Prevention Patients in Primary Care in the UK
Meredith DONALDSON
Statin therapy remains a key intervention to reduce atherosclerotic cardiovascular disease (ASCVD) risk in both primary and secondary prevention patients.1 However, real-world initiation of lipid-lowering therapy (LLT) is lower in primary prevention populations, despite guideline recommendations.2 Moreover, adherence inequities exist by socioeconomic status, with evidence that individuals in deprived areas are particularly likely to have suboptimal statin use.1To compare LLT prescribing rates in high-risk primary prevention (no recorded cardiovascular disease, QRISK ≥ 10% (In the UK, high-risk primary prevention patients are defined as those with a QRISK3 score ≥10%, indicating a predicted 10-year cardiovascular risk ≥10% and representing the NICE-recommended threshold for offering statin therapy for primary prevention versus secondary prevention (recorded CVD) patients using data from the CVD Prevent audit.Data was analysed from the CVD Prevent audit, defining two cohorts: (1) primary prevention: patients with QRISK ≥ 10% and no GP-recorded CVD; (2) secondary prevention: patients with GP-recorded CVD. Performance was evaluated using CVD PREVENT (June 2025), focusing on the proportion of patients in each cohort currently prescribed LLT in our practice, across our Primary Care Network (PCN), and nationally.Primary prevention (QRISK ≥ 10%, no CVD): Our practice, 77.06%; PCN, 56.18%; national, 55.90%. Secondary prevention (GP‑recorded CVD): Our practice, 94.99%; PCN, 86.08%; national, 85.41%.While our practice outperformed both local and national averages in both groups, there remains a substantial gap in LLT uptake between primary and secondary prevention.These findings highlight a persistent treatment disparity: secondary prevention patients are considerably more likely to be prescribed LLT than high-risk primary prevention patients, even though guidelines support proactive initiation in both settings. Targeted efforts to bridge this gap could optimise ASCVD risk-reduction efforts and improve patient outcomes.
