Pediatric Lipid Disorders in Clinical Practice Guidelines

Updated: Jun 27, 2019
  • Author: Henry J Rohrs, III, MD; Chief Editor: Stuart Berger, MD  more...
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Guidelines

Cholesterol Management Guidelines

2018 ACC/AHA/multisociety cholesterol management guidelines

The recommendations on management of blood cholesterol were released in November 2018 by the ACC, AHA, and multiple other medical societies. [13, 27]

The guideline's top key recommendations for reducing the risk of atherosclerotic cardiovascular disease through cholesterol management include those summarized below.

Emphasize a heart-healthy lifestyle across the life course of all individuals.

In patients with clinical atherosclerotic cardiovascular disease (ASCVD), reduce low-density lipoprotein cholesterol (LDL-C) levels with high-intensity statin therapy or the maximally tolerated statin therapy.

In individuals with very high-risk ASCVD, use an LDL-C threshold of 70 mg/dL (1.8 mmol/L) to consider the addition of nonstatins to statin therapy.

In patients with severe primary hypercholesterolemia (LDL-C level ≥190 mg/dL [≥4.9 mmol/L]), without calculating the 10-year ASCVD risk, begin high-intensity statin therapy.

Assess patient adherence and the percentage response to LDL-C–lowering medications and lifestyle changes with a repeat lipid measurement 4-12 weeks after initiation of statin therapy or dose adjustment; repeat every 3-12 months as needed.

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Physical Activity Guidelines

The guidelines on physical activity were released in November 2018 by the Physical Activity Guidelines Advisory Committee of the USDHHS. [28, 29]

Age- and condition-related recommendations

Children aged 3-5 years: Should be physically active throughout the day to enhance growth and development.

Children aged 6-17 years: Sixty minutes or more of moderate-to-vigorous physical activity per day.

Sleep, daily functioning, and mental health

Strong evidence demonstrates that moderate-to-vigorous physical activity improves sleep quality by decreasing the time it takes to fall asleep; it can also increase deep-sleep time and decrease daytime sleepiness.

Single episodes of physical activity promote improvements in executive function, to include organization of daily activities and future planning. Cognition (ie, memory, processing speed, attention, academic performance) also can be improved with physical exercise.

Regular physical activity reduces the risk of clinical depression, as well as reducing depressive symptoms and symptoms of anxiety.

Strong evidence demonstrates regular physical activity improves perceived quality of life.

Risk of diseases and conditions

Regular physical activity minimizes excessive weight gain, helps maintain weight within a healthy range, improves bone health, and prevents obesity, even in children as young as 3-5 years.

In pregnant women, physical activity helps reduce excessive weight gain in pregnancy and helps reduce the risk of developing gestational diabetes and postpartum depression.

Regular physical activity has been shown to improve cognitive function and to reduce the risk of dementia; falls and fall-related injuries; and cancers of the breast, esophagus, colon, bladder, lung, endometrium, kidney, and stomach. It also helps retard the progression of osteoarthritis, type 2 diabetes, and hypertension.

Promotion of physical activity

School- and community-based programs can be effective.

Environmental and policy changes should improve access to physical activity and support of physical activity behavior.

Information and technology should be used to promote physical activity, to include activity monitors (eg, wearable devices), smartphone apps, computer-tailored printed material, and Internet-based programs for self-monitoring, message delivery, and support.

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Cardiac Screening in Young Patients

The British Society of Echocardiography and Cardiac Risk in the Young released guidelines in March 2018 aimed at providing guidance for the use of echocardiography in screening young athletes (ages 14–35 years) for inherited and congenital cardiac disease. [30]

Following a detailed questionnaire (including any symptoms or family history) and brief examination, the 12-lead electrocardiogram (ECG) should be the primary investigation. The ECG should be interpreted in accordance with international consensus guidelines. Those with 2 or more borderline ECG findings or any abnormal ECG findings require further investigation.

In the case of an ECG-only screening, transthoracic echocardiography (TTE) is recommended as a second-line investigation in those athletes with an abnormal ECG, cardiovascular symptoms, abnormal physical examination findings, or a family history of sudden death under the age of 40 years.

When screening patients for inherited cardiac disease due to a family history, the referring physician or echocardiographer should establish the patient's level of physical activity. The total volume of training can be defined as (volume = intensity × duration) or Metabolic Equivalent Test (MET-h/week = METS × duration). Low-intensity exercise is defined as corresponding to 1.8–2.9 METS; moderate intensity is defined as corresponding to 3–6 METS; and high intensity is defined as >6 METS.

The aim of the TTE is to differentiate physiologic adaptation from pathologic abnormality where possible.

Sex: Cardiac chamber dimensions in female athletes rarely fall outside of the established normal range. If they do, further investigation is required. It is more common for male athletes to demonstrate a degree of eccentric remodeling of all cardiac chambers.

Age: Highly trained junior athletes still develop cardiac remodeling in response to physiologic conditioning, but this is often at a lower magnitude than in senior athletes.

Ethnicity: Left ventricular (LV) and right ventricular (RV) cavity sizes are similar between African/Afro-Caribbean and white athletes; however, wall thicknesses and left atrial (LA) size are often larger in the African/Afro-Caribbean athlete. Any wall thickness measurement with a value greater than 13 mm in white male athletes (or greater than 11 mm in white female athletes) or greater than 15 mm in African/Afro-Caribbean male athletes (or 13 mm in African/Afro-Caribbean females) requires further investigation.

Body surface area (BSA): The relationship between body size and chamber dimensions is well established, and therefore all chamber dimensions should be indexed for BSA. That aside, cardiac adaptation to exercise involves eccentric hypertrophy beyond what may be attributable to body composition alone. In the extremes of height and weight (BSA >2.3 m2), non-indexed LV wall thickness and diastolic diameter should not exceed 15 mm and 65 mm, respectively.

Symptoms: A positive history including exertional chest pain, syncope or near-syncope, irregular heartbeat or palpitations, shortness of breath or fatigue, and in particular exertional symptoms should direct the echocardiographer to closely assess for potential causes of sudden cardiac death (SCD). Symptoms are non-specific, and therefore it is important to ensure that all possible causes are excluded.

It is important to be aware that exertional chest pain may direct further evaluation for coronary anomalies, while syncope may be related to arrhythmogenic substrate such as arrhythmogenic RV cardiomyopathy (ARVC) or hypertrophic cardiomyopathy (HCM) or to outflow obstruction.

ECG changes: The type of ECG changes that are present on an athlete's ECG will further guide the focus of the examination. For example, T-wave inversion in leads V1–V3 is one of the hallmarks of ARVC and should lead to a more focused assessment of the right heart, whereas inferolateral T-wave inversion is more frequently present in HCM and should prompt a detailed LV assessment.

LV geometry should be determined using a combination of LV mass indexed to BSA (LV mass index; LVMI) and relative wall thickness (RWT). LVMI is calculated as per British Society of Echocardiography guidelines, and RWT is calculated by summating septal and posterior wall thickness in diastole and dividing into the LV diastolic cavity dimension. LV geometry can be reported as normal (normal RWT and normal LVMI), concentric remodeling (increased RWT with normal LVMI), concentric hypertrophy (increased RWT and increased LVMI), or eccentric hypertrophy (normal RWT with increased LVMI) according to published criteria.

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