Lipid disorders in children – an underestimated problem

Lipid metabolism disorders (dyslipidemias) are a heterogenic group of diseases that may occur at any age, and may be tran-sient or last throughout life. They are one of the most common pathologies in the pediatric population. In the United States, ap-proximately 20% of children (age 6 to 19 years) have abnormal levels of at least one lipid parameter value [1]. A similar frequen-cy was found in the German population [2]. In adults, dyslipidemia is an established risk factor for cardiovascular disease (CVD). Because dyslipidemia often begins in childhood and adolescence, identifying children with dyslipidemia and successfully im-proving their lipid profile may reduce their risk of accelerated atherosclerosis and premature CVD [3]. Scientific evidence con-firmed the relationship between hyperlipidemia at an early age and unfavorable changes in morphology of arterial intima layer which support the hypothesis that atherosclerosis has an early onset, being a chronic and progressive process [4, 5]. There are many factors affecting lipid metabolism, including genetic background, external factors, and a combination of these. The basic classification is based on the causes of the disorders and distinguishes the following: 1. primary dyslipidemias, that are a heterogeneous group of diseases of mono, or polygenic etiology, and 2. secondary dyslipidemias resulting from the association of risk factors with external factors or other pathologies [6]. Subdivision can also be according to biochemical changes as hyper-cholesterolemia (increased total cholesterol – TC and low-density lipoprotein cholesterol [LDL-C] levels), hypertriglyceridemia (elevated triglycerides – TG), low isolated levels of high-density lipoprotein [HDL-C] cholesterol, and lastly, simultaneously in-creased TC and TG associated with low levels of HDL-C (mixed or combined) [7]. Dyslipidemia often appears as a synonym for hyperlipidemia however, hypolipidemias such as abetalipoproteinemia, familial hypobetalipoproteinemia, or sterol synthesis defects should also be considered [6]. There are 25 forms of monogenic lipid disorders described in the literature [8]. The most common monogenic conditions include familial hypercholesterolemia (FH) caused by hepatic LDL-receptor dysfunction (ap-proximately 85–90% of patients), changes in the apolipoprotein B protein receptor on the low-density lipoprotein particle sur-faces (apolipoprotein B deficit), or a gain in the proprotein convertase subtilisin/kexin type...


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