The Impact of the International Cooperation On Familial Hypercholesterolemia Screening and Treatment: results from the ScreenPro FH Project

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Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life

Gender-Based Differences in Anxiety and Depression Following Acute Myocardial Infarction

Abstract Background: Among patients with heart disease, depression and anxiety disorders are highly prevalent and persistent. Both depression and anxiety play a significant role in cardiovascular disease progression and are acknowledged to be independent risk factors. However, there is very little gender-related analysis concerning cardiovascular diseases and emotional disorders. Objective: We aimed to evaluate depression and anxiety levels in patients suffering from myocardial infarction [MI] within the first month after the MI and to assess the association between cardiovascular disease risk factors, demographic indicators and emotional disorders, as well as to determine whether there are gender-based differences or similarities. Methods: This survey included demographic questions, clinical characteristics, questions about cardiovascular disease risk factors and the use of the Hospital Anxiety and Depression Scale [HADS]. All statistical tests were two-sided, and p values < 0.05 were considered statistically significant. Results: It was determined that 71.4% of female and 60.4% of male patients had concomitant anxiety and/or depression symptomatology (p = 0.006). Using men as the reference point, women had an elevated risk of having some type of psychiatric disorder (odds ratio, 2.86, p = 0.007). The HADS-D score was notably higher in women (8.66 ± 3.717) than men (6.87 ± 4.531, p = 0.004). It was determined that male patients who developed depression were on average younger than those without depression (p = 0.005). Conclusions: Women demonstrated an elevated risk of having anxiety and/or depression disorder compared to men. Furthermore, depression severity increased with age in men, while anxiety severity decreased. In contrast, depression and anxiety severity was similar for women of all ages after the MI. A higher depression score was associated with diabetes and physical inactivity, whereas a higher anxiety score was associated with smoking in men. Hypercholesterolemia was associated with both higher anxiety and depression scores, and a higher depression score was associated with physical inactivity in women

Cardiovascular risk assessment of dyslipidemic middle-aged adults without overt cardiovascular disease over the period of 2009–2016 in Lithuania

Abstract Background Cardiovascular mortality in Lithuania is extremely high and abnormal lipid levels are very common among Lithuanian adults. Dyslipidemia is one of the main independent risk factors for cardiovascular diseases (CVD) leading to high absolute CVD risk. The aim of this study was to assess CVD risk in dyslipidemic middle-aged subjects. Methods During the period of 2009–2016 a total of 92,373 people (58.4% women and 41.6% men) were evaluated. This study included men aged 40–54 and women aged 50–64 without overt CVD. Results Any type of dyslipidemia was present in 89.7% of all study population. 7.5% of dyslipidemic patients did not have any other conventional risk factors. Three and more risk factors were detected in 60.1% of dyslipidemic subjects. All analyzed risk factors, except smoking, were more common in dyslipidemic adults compared to subjects without dyslipidemia: arterial hypertension (55.8% vs. 43.3%, p < 0.001), diabetes (11.1% vs. 7.3%, p < 0.001), abdominal obesity (45.3% vs. 30.2%, p < 0.001), BMI ≥30 kg/m2 (35.8% vs. 23.7%, p < 0.001), metabolic syndrome (34.0% vs. 9.2%, p < 0.001), family history of coronary heart disease (26.3% vs. 23.1%, p < 0.001), unbalanced diet (62.5% vs. 52.9%, p < 0.001) and insufficient physical activity (52.0% vs. 44.2%, p < 0.001). The prevalence of all evaluated risk factors, except smoking, increased with age. Average SCORE index was 1.87 in all study population, while dyslipidemic subjects had higher SCORE compared to control group (1.95 vs 1.20, p < 0.001). Conclusions Almost two thirds of dyslipidemic middle-aged Lithuanian adults without overt cardiovascular disease had three or more other CVD risk factors, which synergistically increase absolute risk of CVD. The average 10-year risk of CVD death in patients with dyslipidemia was 1.95%. The importance of managing dyslipidemia as well as other risk factors in order to reduce burden of cardiovascular disease in Lithuania is evident

Cardiovascular risk profile of patients with atherogenic dyslipidemia in middle age Lithuanian population

Abstract Background Atherogenic dyslipidemia (AD) is a blood serum lipid profile abnormality characterized by elevation of triglycerides and reduced levels of high density lipoprotein cholesterol (HDL-C). It is associated with residual cardiovascular risk. This study evaluated and compared the risk profiles of patients with hypertriglyceridemia, low-HDL-C levels or AD, in order to understand, which lipid profile is associated with greater risk. Methods During the period of 2009–2016 a population of 92,373 Lithuanian adults (men 40–54 years old and women 50–64 years old) without overt cardiovascular disease were analyzed. Data of 25,746 patients (68.6% women and 31.4% men) with hypertriglyceridemia and/or low HDL-C low levels were collected and used for further statistical analysis. Results Participants with AD tend to have more unfavorable risk profile than participants with hypertriglyceridemia or low-HDL-C. AD tends to cluster with other atherogenic risk factors, such as arterial hypertension [odds ratio (OR) 1.96, 95% confidence intervals (CI) 1.87–2.01], smoking [OR 1.20, 95% CI 1.14–1.27], diabetes mellitus [OR 2.74, 95% CI 2.58–2.90], obesity [OR 2.92, 95% CI 2.78–3.10], metabolic syndrome [OR 22.27, 95% CI 20.69–23.97], unbalanced diet [OR 1,59, 95% CI 1.51–1.68], low physical activity [OR 1.80, 95% CI 1.71–1,89], CHD history in first degree relatives [OR 1.18, 95% CI 1.12–1.25] and total number of risk factors [OR 1.47, 95% CI 1.38–1.57]. Conclusion AD is associated with more unfavorable cardiovascular risk profile than hypertriglyceridemia or low-HDL cholesterol levels. Once identified AD should require additional medical attention since it is an important factor of residual cardiovascular risk