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

Intérêt de l'automesure tensionnelle dans la pratique quotidienne des cabinets médicaux (étude menée au sein de différents pôles de santé dans le cadre d'une coopération interprofessionnelle)

L hypertension artérielle (HTA) est aujourd hui un problème majeur de santé publique avec près de 15 millions d hypertendus en France. Des études montrent que l application des nouvelles recommandations et notamment la bonne pratique de l Automesure tensionnelle (AMT) par les médecins généralistes n est pas suffisante. L objectif de cette étude était d évaluer l intérêt de l AMT dans la prise en charge du patient hypertendu d une part pour confirmer un diagnostic et d autre part pour adapter et suivre les traitements des patients dans le cadre d une collaboration entre médecins et pharmaciens. 59% des individus traités sont hypertendus, d où un traitement insuffisant et une HTA blouse blanche à été détectée chez 44% des patients non traités pour l HTA. Cette expérimentation, mise en place dans le cadre d une collaboration interprofessionnelle, démontre clairement l intérêt de l AMT pour le patient hypertendu et la nécessité de pérenniser ce protocole de prise en charge.Hypertension is now a major public health problem with nearly 15 million hypertensive patient in France. Studies show that the application of the new recommendations, and especially the good practice of the home blood pressure measurement (HBPM) by general practitioners is not sufficient. The aim of the study was to evaluate the interest of HBPM in the management of the hypertensive patient in order to confirm a diagnosis on one hand, and on the other hand, to adapt and follow the treatment of the patients in the context of collaboration between physicians and pharmacists. 59% of treated individuals have hypertension, and a white-coat hypertension was detected with 44% of the patients that are not subjected to treatment. This experiment, set up as part of interprofessional collaboration, clearly demonstrates the interest of HBPM for the hypertensive patient and the need to perpetuate this management protocol.LYON1-BU Santé (693882101) / SudocRENNES1-BU Santé (352382103) / SudocSudocFranceF

Evaluation de la stratégie des "paniers thérapeutiques" dans le traitement de l'hypertension artérielle

PARIS5-BU Méd.Cochin (751142101) / SudocPARIS-BIUM (751062103) / SudocCentre Technique Livre Ens. Sup. (774682301) / SudocSudocFranceF

Validation and reproducibility of a short food frequency questionnaire for cardiovascular prevention

International audienceBACKGROUND: Diet strongly influences cardiovascular risk. Dietary evaluation is a major issue in cardiovascular prevention, but few simple tools are available. Our team previously validated a short food frequency questionnaire; a new version of this questionnaire (Cardiovascular Dietary Questionnaire 2 [CDQ-2]) is easier to complete and more reliable. AIMS: To validate CDQ-2 in comparison with the original version, and to test its reproducibility. METHODS: CDQ-2 has 17 closed-ended questions; it provides a global dietary score that is a combination of specific scores for saturated, monounsaturated and omega-3 fatty acids, and fruit and vegetables. CDQ-2 was validated against the original version in two groups, who completed both questionnaires: 99 patients with cardiovascular risk factors and 50 healthy subjects. Reproducibility was assessed with 27 health professionals who completed the questionnaire twice, with a 1-month interval. RESULTS: The correlation coefficients of the scores between the two questionnaires ranged from 0.65 (monounsaturated fatty acids) to 0.93 (fruit and vegetables) (all P<0.001). The percentage of subjects classified in the same quartile by both questionnaires ranged from 56% (omega-3 fatty acids) to 78% (fruit and vegetables). The percentage of subjects classified in the same or adjacent quartile ranged from 91% to 99%. The intraclass correlation coefficients, which assessed reproducibility, ranged from 0.61 (fruit and vegetables) to 0.88 (saturated fatty acids) (P<0.001). CONCLUSIONS: This new version of the short dietary questionnaire shows good reproducibility and correlations with the original version; use and reliability are improved, which makes CDQ-2 a valuable tool for cardiovascular prevention

A minimal resting time of 25 min is needed before measuring stabilized blood pressure in subjects addressed for vascular investigations

Abstract Blood pressure (BP) measurement is a central element in clinical practice. According to international recommendations 3 to 5 minutes of resting is needed before blood pressure measurement. Surprisingly, no study has modelled the time course of BP decrease and the minimum resting-time before BP measurement. A cross-sectional bicentric observational study was performed including outpatients addressed for vascular examination. Using two automatic BP monitors we recorded the blood pressure every minute during 11 consecutive minutes. The data was analyzed by non-linear mixed effect regression. Systolic (SBP) and diastolic BPs were studied and we tested the effect of covariates on its evolution through log-likelihood ratio tests. We included 199 patients (66+/−13years old). SBP was found to decrease exponentially. Simulations based on the final model show that only half the population reaches a stabilized SBP (defined as SBP + 5 mmHg) after 5 min of resting-time while it takes 25 min to ensure 90% of the population has a stabilized SBP. In conclusion, our results and simulations suggest that 5 minutes are not enough to achieve a stabilized SBP in most patients and at least 25 minutes are required. This questions whether the diagnosis of hypertension can be reliably made during routine visits in general practitioners’ offices

Is home blood pressure monitoring feasible and well accepted in nephrectomized patients for renal cancer? (STAFF study).

International audienc

Time- and sex-dependent efficacy of magnesium sulfate to prevent behavioral impairments and cerebral damage in a mouse model of cerebral palsy

International audienc

Niveau d’activité physique et contrôle ambulatoire de l’hypertension artérielle. Résultats de l’étude pilote « Acti-HTA »

Retour sur les 34èmes Journées de l’Hypertension ArtérielleInternational audienceWhile physical activity (PA) is recommended for high blood pressure management, the level of PA practice of hypertensive patients remains unclear. We aimed to assess the association between the level of both PA and blood pressure of individuals consulting in 9 hypertension specialist centres. Eighty-five hypertensive patients were included (59 ± 14 years, 61% men, 12% smokers, 29% with diabetes). Following their consultation, they performed home blood pressure measurement (HBPM) over 7 days (2 in the morning+2 in the evening), they wrote in a dedicated form their daily activities to estimate the additional caloric expenditure using Acti-MET device (built from International physical Activity Questionnaire [IPAQ]). Thus, patients completed a self-administered questionnaire "score of Dijon" (distinguishing active subjects with a score>20/30, from sedentary 20/30, des sédentaires < 10/30). Les hypertendus contrôlés en AMT (< 135/85 mm Hg) (55 % des sujets), en comparaison aux non contrôlés, étaient plus âgés, avaient une tendance non significative à une dépense calorique déclarée plus élevée (4959 ± 5045 kcal/semaine vs 4048 ± 4199 kcal/semaine, p = 0,3755) et leur score de Dijon (19,44 ± 5,81 vs 18,00 ± 4,32, p = 0,2094) montrait une proportion de sujets « actifs » plus importante (48,9 % vs 34,2 %, p = 0,1773). En conclusion, nos résultats ont objectivé une « tendance » à une AP déclarée plus importante pour les sujets dont l’HTA est contrôlée. Ceci nous encourage à poursuivre par une étude qui inclurait davantage de sujets et dont l’AP serait évaluée par le port pendant 7 jours d’un capteur de type accéléromètre (méthode objective)

Optimum and stepped care standardised antihypertensive treatment with or without renal denervation for resistant hypertension (DENERHTN): a multicentre, open-label, randomised controlled trial

International audienceBACKGROUND:Conflicting blood pressure-lowering effects of catheter-based renal artery denervation have been reported in patients with resistant hypertension. We compared the ambulatory blood pressure-lowering efficacy and safety of radiofrequency-based renal denervation added to a standardised stepped-care antihypertensive treatment (SSAHT) with the same SSAHT alone in patients with resistant hypertension.METHODS:The Renal Denervation for Hypertension (DENERHTN) trial was a prospective, open-label randomised controlled trial with blinded endpoint evaluation in patients with resistant hypertension, done in 15 French tertiary care centres specialised in hypertension management. Eligible patients aged 18-75 years received indapamide 1·5 mg, ramipril 10 mg (or irbesartan 300 mg), and amlodipine 10 mg daily for 4 weeks to confirm treatment resistance by ambulatory blood pressure monitoring before randomisation. Patients were then randomly assigned (1:1) to receive either renal denervation plus an SSAHT regimen (renal denervation group) or the same SSAHT alone (control group). The randomisation sequence was generated by computer, and stratified by centres. For SSAHT, after randomisation, spironolactone 25 mg per day, bisoprolol 10 mg per day, prazosin 5 mg per day, and rilmenidine 1 mg per day were sequentially added from months two to five in both groups if home blood pressure was more than or equal to 135/85 mm Hg. The primary endpoint was the mean change in daytime systolic blood pressure from baseline to 6 months as assessed by ambulatory blood pressure monitoring. The primary endpoint was analysed blindly. The safety outcomes were the incidence of acute adverse events of the renal denervation procedure and the change in estimated glomerular filtration rate from baseline to 6 months. This trial is registered with ClinicalTrials.gov, number NCT01570777.FINDINGS:Between May 22, 2012, and Oct 14, 2013, 1416 patients were screened for eligibility, 106 of those were randomly assigned to treatment (53 patients in each group, intention-to-treat population) and 101 analysed because of patients with missing endpoints (48 in the renal denervation group, 53 in the control group, modified intention-to-treat population). The mean change in daytime ambulatory systolic blood pressure at 6 months was -15·8 mm Hg (95% CI -19·7 to -11·9) in the renal denervation group and -9·9 mm Hg (-13·6 to -6·2) in the group receiving SSAHT alone, a baseline-adjusted difference of -5·9 mm Hg (-11·3 to -0·5; p=0·0329). The number of antihypertensive drugs and drug-adherence at 6 months were similar between the two groups. Three minor renal denervation-related adverse events were noted (lumbar pain in two patients and mild groin haematoma in one patient). A mild and similar decrease in estimated glomerular filtration rate from baseline to 6 months was observed in both groups.INTERPRETATION:In patients with well defined resistant hypertension, renal denervation plus an SSAHT decreases ambulatory blood pressure more than the same SSAHT alone at 6 months. This additional blood pressure lowering effect may contribute to a reduction in cardiovascular morbidity if maintained in the long term after renal denervation.FUNDING:French Ministry of Health