Dislipidemia mixta severa en población pediátrica: enfoque diagnóstico y terapéutico. A propósito de un caso / Severe mixed dyslipidemia in pediatric population: Diagnosis and treatment. About a case

Objetivo: Dar a conocer una presentación atípica de dislipidemia mixta severa en población pediátrica y su abordaje diagnóstico y terapéutico. Caso Clínico: Escolar femenina de 7 años de edad, quien es referida por presentar suero lactescente, evidenciado al realizarle pruebas de laboratorio. Examen físico: talla, peso e índice de masa corporal en percentil 50, hepatomegalia palpable no dolorosa. Paraclínicos de ingreso: glucemia 114 mg/dl, colesterol: 166 mg/dl y triglicéridos: 1200 mg/ dl. Electroforesis: se evidencia VLDL y quilomicrones. Se hace diagnóstico de hiperlipoproteinemia tipo V, se inicia tratamiento con modificación de estilo de vida y ácidos omega 3, 1500 mg/día. Persisten niveles elevados de triglicéridos y aumenta el colesterol, por lo que se omite el omega 3 y se indica tratamiento con ezetimiba 10 mg y ciprofibrato 50 mg diarios. El estudio genético evidenció una variante intrónica G/C en el intrón 7 para el gen de PPARα, correlacionándose con un riesgo elevado de hipertrigliceridemia y mutación del exón 4 del gen del receptor de LDL, por lo que se modifica el diagnóstico a dislipidemia mixta con elevación de VLDL, quilomicrones y LDL. La evolución actual ha sido satisfactoria. Conclusión: Las hiperlipidemias primarias son un grupo de patologías con frecuencia variables de acuerdo a los diferentes fenotipos presentes. El diagnóstico diferencial es importante para descartar una causa secundaria. La electroforesis y el estudio genético orientan al diagnóstico, y el tratamiento debe ser individualizado dependiendo de la clínica del paciente, los niveles de lípidos plasmáticos y los factores de riesgos asociados.

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.

A Case of Hypothyroidism and Type 2 Diabetes Associated with Type V Hyperlipoproteinemia and Eruptive Xanthomas

Primary hypothyroidism and type 2 diabetes are both typically associated with the increased level of triglycerides. To date, there have been only a few case reports of type 2 diabetes patients with both type V hyperlipoproteinemia and eruptive xanthomas, but there have been no reports of hypothyroidism patients associated with eruptive xanthomas. We report here on a case of a 48-yr old female patient who was diagnosed with type 2 diabetes and primary hypothyroidism associated with both type V hyperlipoproteinemia and eruptive xanthomas. We found rouleaux formation of RBCs in peripheral blood smear, elevated TSH, and low free T4 level, and dyslipidemia (total cholesterol 18.1 mM/L, triglyceride 61.64 mM/L, HDL 3.0 mM/L, and LDL 2.54 mM/L). She has taken fenofibrate, levothyroxine, and oral hypoglycemic agent for 4 months. After treatment, both TSH level and lipid concentration returned to normal range, and her yellowish skin nodules have also disappeared.

Effects of acute mixed hyperlipidemia on acute myocardial infarction size and its mechanism / 北京大学学报(医学版)

Objective:To investigate the effect of acute mixed hyperlipidemia on acute myocardial infarct size and the potential mechanism.Methods: Fifty-three Sprague-Dawley(SD) rats were divided into three groups: the control group(n=15) was injected with 1.0 mL 0.9% sodium chloride,the low dose group(n=17) and high dose group(n=21) were injected with 0.5 mL and 1.0 mL 10% Triton WR-1339 solution respectively.Acute myocardial infarction was produced 24 hours after the injection.Serum lipid and the activity of lipoprotein-associated phospholipase A2(Lp-PLA2) were measured before and 24 hours after the injection.Rats were killed 24 hours after ligation and their hearts were excised to evaluate the myocardial infarct size.Results: Serum total cholesterol(TC) and trig1ycerides(TG) concentrations were(6.92?1.48) mmol/L and(11.76?2.76) mmol/L in the low dose group 24 hours after injection,(11.91?0.87) mmol/L and(33.97?5.85) mmol/L in the high dose group,and both increased significantly compared with the baseline.Also serum low density lipoprotein cholesterol(LDL-C) concentration increased(P0.05).Myocardial infarct size was significantly(P