Resumen

AGUIRRE, Miguel A et al. Severe mixed dyslipidemia in pediatric population: Diagnosis and treatment. About a case. Rev. Venez. Endocrinol. Metab. [online]. 2016, vol.14, n.3, pp.205-216. ISSN 1690-3110.

Objective: To present an atypical presentation of severe mixed dyslipidemia in the pediatric population and its diagnostic and therapeutic approach. Case Report: Female 7-year-old is referred because of presenting lactescent serum, evidenced by laboratory tests. Physical exam: height, weight and body mass index in the 50th percentile, painless palpable hepatomegaly. Initial paraclinical: glucose 114 mg/dl, cholesterol 166 mg/dl and triglycerides 1200 mg/dl. Electrophoresis: evidence of VLDL and chylomicrons. Hyperlipoproteinemia type V diagnosis is made; treatment is initiated with lifestyle modification and omega 3 fatty acids, 1500 mg/day. However, given the persistence of high levels of triglycerides and cholesterol, the omega 3 fatty acids is omitted and treatment with ezetimibe 10 mg and ciprofibrate 50 mg daily, is indicated. Genetic studies revealed an intronic variant G/C in intron 7 for gene PPARα, correlated with a high risk of hypertriglyceridemia, and a mutation of exon 4 of gene LDL receptor; for this reason, the diagnosis is modified to mixed dyslipidemia, with elevated VLDL, LDL and chylomicron. The current evolution has been satisfactory. Conclusions: Primary hyperlipidemia is a group of diseases with variable frequency according to the different phenotypes present. The differential diagnosis is important to exclude a secondary cause. Electrophoresis and genetic study guide the diagnosis. Treatment should be individualized depending on the clinical findings of the patient, plasma lipid levels, and associated risk factors.

Palabras clave : hypertriglyceridemia; hypercholesterolemia; hyperlipoproteinemia type V; primary hyperlipidemia dyslipidemia.

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