Primary hypertriglyceridemia in children and adolescents

Primary disorders of lipid metabolism causing hypertriglyceridemia (HyperTG) result from genetic defects in triglyceride synthesis and metabolism. With the exception of lipoprotein lipase deficiency, these primary HyperTG disorders usually present in adulthood. However, some are unmasked earlier by precipitating factors, such as obesity and insulin resistance, and can be diagnosed in adolescence. Physical findings may be present and can include eruptive, palmer, or tuberoeruptive xanthomas. Triglyceride levels are very high to severe and can occur in the absence or the presence of other lipid abnormalities. Each of the causes of HyperTG is associated with an increased risk to develop recurrent pancreatitis and some may increase the risk of premature cardiovascular disease. Adoption of a healthy lifestyle that includes a low-fat diet, optimizing body weight, smoking avoidance/cessation, and daily physical activity is the first line of therapy. Pharmacologic therapies are available and can be beneficial in select disorders. Here, we review the causes of primary HyperTG in children and adolescents, discuss their clinical presentation and associated complications including the risk of pancreatitis and premature cardiovascular disease, and conclude with management and novel therapies currently in development. The goal of this article is to provide a useful resource for clinicians who may encounter primary HyperTG in the pediatric population.