Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia

Experience on statin therapy in paediatric age: retrospective study in a Portuguese referral centre

“…With regard to the modifiable risk factors, it is important to highlight the high rate of sedentary lifestyles (51.5%) that, combined with a low rate of physical activity (84.9%), are representative of the Portuguese paediatric population. 24 It was also shown that obesity (30.7%) and arterial hypertension (13.8%) in this study were higher than the estimated prevalence (11.7 and 12.8%, respectively) found in the literature. 35,36 In fact, although all patients were subjected to multi-disciplinary interventions for the (re)education of lifestyles, for at least 6 months, the high prevalence of obesity and unhealthy lifestyles types remained unchanged.…”

“…10 The existence of premature cardiovascular disease was considered if angina, acute myocardial infarction, myocardial revascularisation (surgery/stent/angioplasty), or sudden cardiac death occurred in the parents, grandparents, or uncles, under 55 years in males, or under 65 years in females. 10,18,23,24 In the absence of consensual values to evaluate physical activity and sedentary lifestyle parameters, it was assumed as a cardiovascular risk factor if the child practised less than 7 hours per week of moderateto-intensive physical activity and/or screen time of more than 2 hours/day. 10 The algorithm recommended by the American Heart Association panel in 2006 (Table 2) was used to stratify cardiovascular risk in the sub-population of patients with paediatric basic high-risk pathology.…”

“…The diagnosis of familial hypercholesterolaemia was based on the Simon Broome Heart Research Trust criteria adapted by the Portuguese Family Hypercholesterolaemia Study (Table 3), and also considering the results of a genetic study performed. [24][25][26]…”

“…10,23 As expected, all patients included in the study, regardless of the aetiology of dyslipidaemia, presented a considerable number of risk factors in association with altered lipid profile. 24 At least 65.2% of the individuals had two to three identifiable risk factors. In addition, the prevalence of moderate and high-risk factors was significant (54.5%, n = 36), as well as the existence of family history of premature cardiovascular disease (37.9%; n = 25).…”

What matters most in pediatric familial hypercholesterolemia, genotype or phenotype?

“…The study by Medeiros et al ( 5 ) in this issue of the Journal of Lipid Research evaluated lipid biomarkers in 237 unrelated children between the ages of 2 and 17 years diagnosed with FH based on clinical criteria slightly modifi ed from the Simon Broome registry ( 6 ), but which required a total cholesterol (TC) >260 mg/dl or LDL-C >155 mg/dl plus either a family history of hypercholesterolemia (defi ned as TC >290 mg/dl in at least one parent) or pCVD. All but a few of the younger children met the TC or LDL-C criteria, about 25% met the pCVD criteria, and 75% had a documented TC >290 mg/dl in a parent.…”