scholarly journals Risk Assessment and Clinical Management of Children and Adolescents with Heterozygous Familial Hypercholesterolaemia. A Position Paper of the Associations of Preventive Pediatrics of Serbia, Mighty Medic and International Lipid Expert Panel

2021 ◽  
Vol 10 (21) ◽  
pp. 4930
Author(s):  
Bojko Bjelakovic ◽  
Claudia Stefanutti ◽  
Željko Reiner ◽  
Gerald F. Watts ◽  
Patrick Moriarty ◽  
...  

Heterozygous familial hypercholesterolaemia (FH) is among the most common genetic metabolic lipid disorders characterised by elevated low-density lipoprotein cholesterol (LDL-C) levels from birth and a significantly higher risk of developing premature atherosclerotic cardiovascular disease. The majority of the current pediatric guidelines for clinical management of children and adolescents with FH does not consider the impact of genetic variations as well as characteristics of vascular phenotype as assessed by recently developed non-invasive imaging techniques. We propose a combined integrated approach of cardiovascular (CV) risk assessment and clinical management of children with FH incorporating current risk assessment profile (LDL-C levels, traditional CV risk factors and familial history) with genetic and non-invasive vascular phenotyping. Based on the existing data on vascular phenotype status, this panel recommends that all children with FH and cIMT ≥0.5 mm should receive lipid lowering therapy irrespective of the presence of CV risk factors, family history and/or LDL-C levels Those children with FH and cIMT ≥0.4 mm should be carefully monitored to initiate lipid lowering management in the most suitable time. Likewise, all genetically confirmed children with FH and LDL-C levels ≥4.1 mmol/L (160 mg/dL), should be treated with lifestyle changes and LLT irrespective of the cIMT, presence of additional RF or family history of CHD

2014 ◽  
Vol 33 (1) ◽  
pp. 47-57
Author(s):  
Gorana Mitić

Summary Venous thromboembolism (VTE) is a multifactorial disease that results from a conjunction of several risk factors, both inherited and acquired. The younger the person, the more risk factors are required to cause the disease. Since 1937, when the term thrombophilia was coined by Nygaard and Brown, and 1965 when it was used for the first time by Egeberg, a substantial increase in the percentage of patients with VTE and underlying thrombophilia has been reported, particularly after the discovery of the most common thrombophilic mutations, FV Leiden and FII G20210A. Presence of thrombophilia could be detected in as many as 50% of all patients with VTE. Thrombophilia testing has increased lately not only in patients with thromboses but also for other indications, however, whether the results will help in the clinical management of the patients is still unclear. Thrombo philia testing is most commonly performed in young patients with VTE, patients with recurrent episodes of VTE or with thromboses at unusual sites and in persons with positive family history. Whether the presence of thrombophilia influences the clinical management of the patient remains controversial. Patients with VTE and the recognized risk factors such are surgery, trauma, immobilization, pregnancy and the puerperium are at very low risk for recurrence, but prediction of the recurrence of VTE based on the presence of thrombophilia has not been sufficiently explored. Presence of clinical risk factors should be integrated in the strategy of VTE risk assessment. Since many risk factors, such as obesity, hypertension, dyslipidemia, diabetes and smoking are common for both arterial and venous thromboses, it has been suggested that VTE should be considered as part of a pancardiovascular syndrome, along with coronary artery disease, peripheral artery disease and cerebrovascular disease. Positive family history for VTE in a first-degree relative increases the risk for VTE occurrence by 2-fold, regardless of the presence of inherited thrombophilia. Pregnancy-related risk of VTE is sixfold in creased compared to nonpregnant age-matched women. Women with thrombophilia have been shown to be at an increased risk not only of pregnancy-associated thromboembolism, but also of other vascular complications, including recurrent fetal loss and intrauterine fetal death. Risk for antepartal pregnancy-related VTE is considerably increased in obese women confined to bed for longer than one week, in women who underwent assisted reproduction, in multiple pregnancies, gestational diabetes and maternal age over 35 years. Postpartal risk factors differ, with eclampsia, emergency cesarian section and placenta praevia being the most important. Testing for thrombophilia generally does not alter the management of a patient with VTE, except for selected groups of patients. Women of fertile age with positive family history and presence of thrombophilia may benefit from thromboprophylaxis implementation during pregnancy, or can make the decision not to use oral contraceptives. In the future, the use of global coagulation tests that could detect a hypercoagulable state, along with other clinical risk factors, might improve VTE risk assessment and optimize the duration of treatment of VTE disease.


2013 ◽  
Vol 24 (3) ◽  
pp. 437-441 ◽  
Author(s):  
Avishay Elis ◽  
Rong Zhou ◽  
Evan A. Stein

AbstractBackground:This study evaluated the effectiveness of long-term intensive lipid-lowering therapy in children and adolescents with familial hypercholesterolaemia.Methods:The charts of 89 children and adolescents with heterozygous familial hypercholesterolaemia among ∼1000 patients treated from 1974 to 2008 were reviewed. Familial hypercholesterolaemia was defined as low-density lipoprotein cholesterol level >90th percentile in individuals with a history of familial hypercholesterolaemia.Results:Of the 89 patients, 51% were male; the mean age at diagnosis was 8 ± 4 years, and the mean follow-up was 13 ± 8 years. Baseline and most recent low-density lipoprotein cholesterol levels (mg/dl) under treatment were 250 ± 50 and 142 ± 49, respectively, reduced 43% from baseline (p < 0.0001). At the most recent visit, 39 patients received statin monotherapy, mainly atorvastatin or rosuvastatin, and 50 (56%) patients received combination therapy, mainly vytorin or rosuvastain/ezetimibe, 15 patients were >30 years of age, and none developed symptomatic cardiovascular disease or needed revascularisation.Conclusions:Long-term statin-based therapy can reduce low-density lipoprotein cholesterol levels in most children and adolescents with heterozygous familial hypercholesterolaemia and decrease cardiovascular risk significantly.


BMC Medicine ◽  
2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Louise Lindberg ◽  
Emilia Hagman ◽  
Pernilla Danielsson ◽  
Claude Marcus ◽  
Martina Persson

Abstract Background Anxiety and depression are more common in children with obesity than in children of normal weight, but it is unclear whether this association is independent of other known risk factors. Interpretation of results from previous studies is hampered by methodological limitations, including self-reported assessment of anxiety, depression, and anthropometry. The aim of this study was to investigate whether obesity increases the risk of anxiety or depression independently of other risk factors in a large cohort of children and adolescents, using robust measures with regard to exposure and outcome. Methods Children aged 6–17 years in the Swedish Childhood Obesity Treatment Register (BORIS, 2005–2015) were included (n = 12,507) and compared with a matched group (sex, year of birth, and area of residence) from the general population (n = 60,063). The main outcome was a diagnosis of anxiety or depression identified through ICD codes or dispensed prescribed medication within 3 years after the end of obesity treatment. Hazard ratios (HRs) with 95% confidence intervals (CIs) from Cox proportional models were adjusted for several known confounders. Results Obesity remained a significant risk factor for anxiety and depression in children and adolescents after adjusting for Nordic background, neuropsychiatric disorders, family history of anxiety/depression, and socioeconomic status. Girls in the obesity cohort had a 43% higher risk of anxiety and depression compared to girls in the general population (adjusted HR 1.43, 95% CI 1.31–1.57; p < 0.0001). The risk in boys with obesity was similar (adjusted HR 1.33, 95% CI 1.20–1.48; p < 0.0001). In sensitivity analyses, excluding subjects with neuropsychiatric disorders and a family history of anxiety/depression, the estimated risks in individuals with obesity were even higher compared with results from the main analyses (adjusted HR [95% CI]: girls = 1.56 [1.31–1.87], boys = 2.04 [1.64–2.54]). Conclusions Results from this study support the hypothesis that obesity per se is associated with risk of both anxiety and depression in children and adolescents.


2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e13092-e13092
Author(s):  
Michiyo Yamada ◽  
Takashi Ishikawa ◽  
Sadatoshi Sugae ◽  
Kazutaka Narui ◽  
Eiji Arita ◽  
...  

e13092 Background: No comprehensive breast cancer risk assessment model for Japanese women exists. Consequently, we have collected Japanese women’s data to investigate key BC risk factors with an objective of deriving a Japanese-women specific BC risk assessment model. Methods: We conducted a retrospective case-control study (paper-based with postal survey) at 15 institutions during 2014-2015. A survey was distributed to Japanese females aged 20-80 who had BC check-up. All pertinent data of a total of 34 factors including demographic and reproductive factors, social history and eating habits was collected. Cases and controls were divided into three groups respectively, premenopausal (PRE; 20 ≤ age < 45), perimenopausal (PERI; 45 ≤ age ≤ 55) and postmenopausal group (POST; 55 < age ≤ 80). Cases and control variables were compared by t-test, chi-square test and Wilcoxon rank sum test. Preliminary BC risk was calculated by logistic regression analysis. Results: A total of 3975 female Japanese datasets were collected, of which 2494 were complete (all variables present) with 1401 controls and 1093 cases were used. There were 222 cases and 332 controls for PRE, 404 cases and 537 controls for PERI, and 467 and 532 controls for POST. The univariate analysis demonstrated that BMI was significantly higher in cases than in controls in all groups (P < 0.01) as was “number of deliveries” in PRE and POST (P < 0.001) and Brinkman index in PRE and PERI (p = 0.017). Multivariate analysis revealed that BC risk was positively associated with BMI (OR 1.080, 95% CI 1.017–1.148, p = 0.012) in PRE, BMI (OR 1.121, 95% CI 1.072–1.174, p < 0.01) and brinkman index (OR 1.000005, 95% CI 1.000002–1.000008, p < 0.01) in PERI, age (OR 1.054, 95% CI 1.028–1.081, p < 0.010), BMI (OR 1.153, 95% CI 1.076-1.171, p < 0.01) and family history (OR 1.497, 95% CI 1.103–2.033, p = 0.001) in POST, while negatively associated with regular exercise (OR 0.672, 95% CI 0.517–0.873, p = 0.003) in POST. Conclusions: BMI in all groups, in addition, the Brinkman index in PERI and age and family history in POST are BC risk factors. Exercise is a protective risk factor in POST. However, the preliminary results are incomplete and further analysis will be conducted before a full risk assessment model is proposed for Japanese women.


2006 ◽  
Vol 95 (11) ◽  
pp. 1461-1466 ◽  
Author(s):  
Anouk Van Der Graaf ◽  
Melchior C. Nierman ◽  
Jean Firth ◽  
Karen Wolmarans ◽  
A. David Marais ◽  
...  

10.2223/1153 ◽  
2004 ◽  
Vol 80 (2) ◽  
pp. 135-140 ◽  
Author(s):  
Ceres C. Romaldini ◽  
Hugo Issler ◽  
Ary L. Cardoso ◽  
Jayme Diament ◽  
Neusa Forti

Author(s):  
Randy Borum

Emergency workers and behavioral health professionals who work in crisis or emergency settings should understand the fundamentals of assessing and managing violence risk in children and adolescents, but violence potential must be considered in its developmental context. This chapter presents an approach for assessing violence risk among youth in the context of behavioral emergencies. It begins with a brief discussion of the developmental context for risk assessment and how to think about violent outcomes among children and adolescents. Then, it covers the information an evaluator would need to collect, how to collect it, and how to reach a sound decision about a youth’s risk level. It encourages evaluators in emergency or crisis settings to rely on evidence-based risk factors, while also applying individualized formulations to give texture to the assessments and to the subsequent forecasts about the nature and degree of risk for violence.


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