Hipertrigliceridemia grave y síndrome de quilomicronemia familiar: una revisión de la literatura reciente / Severe hypertriglyceridemia and familial chylomicronemia syndrome: a review of recent literature

Resumen La hipertrigliceridemia (HTG) es un problema que se presenta con frecuencia en la práctica clínica. Su prevalencia en adultos es cercana al 10%. El espectro varía desde una predisposición que resulta en HTG solo en presencia de sobrepeso considerable o consumo excesivo de alcohol hasta mutaciones graves muy raras que pueden conducir a HTG grave en la infancia, incluso en ausencia de factores adicionales, como en el síndrome de quilomicronemia familiar (FCS, familial chylomicronemia syndrome). Este es un trastorno autosómico recesivo poco frecuente del metabolismo del quilomicrón que causa una importante elevación de los triglicéridos (>10 mmol/885 mg/dl). Esta condición está asociada con un riesgo significativo de pancreatitis aguda recurrente. La aproximación diagnóstica se logra mediante la caracterización fenotípica, y el hallazgo de la alteración genética ayuda a dar un diagnóstico más preciso. Además, se ha propuesto una puntuación clínica para el diagnóstico de FCS, pero necesita más validación. Las opciones de tratamiento disponibles para reducir los triglicéridos, como los fibratos y los ácidos grasos omega-3, no son eficaces en los pacientes con FCS. Actualmente, el único tratamiento sigue siendo una dieta de por vida muy baja en grasas, que reduce la formación de quilomicrones. Finalmente, los inhibidores de la apolipoproteína C-III están en desarrollo y podrían constituir opciones de tratamiento para estos pacientes. Considerando lo anterior, el objetivo de este artículo es realizar una revisión general sobre la HTG grave, con énfasis en el FCS, basados en la literatura disponible más reciente.

Abstract Hypertriglyceridemia (HTG) is a problem that occurs frequently in clinical practice. Its prevalence in adults is close to 10% and it varies between regions. The spectrum ranges from a disposition that results in HTG only in the presence of considerable overweight and/or excessive alcohol consumption to very rare serious mutations that can lead to severe HTG in childhood, even in the absence of additional factors such as familial chylomicronemia syndrome (FCS). This is a rare autosomal recessive disorder of chylomicron metabolism that causes a severe elevation in triglyceride levels (>10 mmol/885 mg/dL). This condition is associated with a significant risk of recurrent acute pancreatitis. Because this is a genetic condition, the optimal diagnostic strategy remains the genetic test. In addition, a clinical score for the diagnosis of FCS has been proposed but it needs further validation. Available treatment options to lower triglycerides, such as fibrates or omega-3 fatty acids, are not effective in patients with FCS. Currently, the cornerstone of treatment remains a very low-fat, lifetime diet that reduces chylomicron formation. Finally, apolipoprotein C-3 inhibitors are under development and may eventually be treatment options for these patients. The objective of this article is to carry out a general review of severe HTG, with an emphasis on FCS and based on the most recent available literature.

Factores de riesgo asociados a hipertensión arterial en estudiantes / Risk factors associated with arterial hypertension in students

Introducción: La hipertensión arterial causa millones de fallecimientos anualmente. Su origen es heterogéneo; implicando factores, tanto modificables como no modificables. Objetivos Identificar los factores de riesgo asociados a hipertensión arterial en estudiantes de la Universidad Nacional Autónoma de Honduras en el Valle de Sula (UNAH-VS) en el II y III trimestre del 2018. Pacientes y métodos Se realizó un estudio cuantitativo de casos y controles con una proporción 1:1 durante el II y III trimestre del año 2018 en el Área de Salud de la Subdirección de Desarrollo Estudiantil, Cultura, Arte y Deporte (SUDECAD) de la UNAH-VS. Mediante un muestreo no probabilístico por conveniencia, se obtuvo una muestra de 34 universitarios, casos, diagnosticados con hipertensión arterial y 34 controles que no padecían la enfermedad. Resultados 24 (35.29%) de los pacientes eran hombres. Los factores con una importante asociación a la enfermedad son el antecedente familiar de hipertensión familiar en primer grado (OR: 3.8 IC: 95%, 1.3 ­ 11.2), la obesidad (OR: 5.1 IC: 95%, 1.6 ­ 16.5), el sedentarismo (OR: 4.8 IC: 95%, 1.6 ­ 14.2), la dieta no saludable (OR: 7.6 IC: 95%, 1.5 ­ 37.8), la hipertrigliceridemia (OR: 5.2 IC: 95%, 1.7 ­ 15.9) y la hipercolesterolemia (OR: 7.3 IC: 95%, 2.2 ­ 23.5). Conclusiones En los factores de riesgo no modificables, el antecedente familiar de la enfermedad fue el más importante. En los factores de riesgo modificables, predominaron aquellos asociados fuertemente a riesgo cardiovascular...(AU)

Acute Pancreatitis in a Pregnant Patient with Type IV Hyperlipoproteinemia / 대한췌담도학회지

Most cases of hypertriglyceridemia (HTG)-induced gestational pancreatitis occur when a person with hyperlipidemia is overweight due to pregnancy or has secondary triggers associated with triglycerides (TGs). In Korea, 6 cases of HTG-induced gestational pancreatitis have been reported, but none of the affected patients had TG levels below 1,000 mg/dL. A 36-year-old female at 30 weeks of gestation was admitted due to pain in her upper abdomen. Initial biochemical analysis revealed a TG level of 260 mg/dL, an amylase level of 2,951 U/L and a lipase level of 3,500 U/L. Abdominal ultrasonography showed pancreatic swelling with a hypoechogenic rim. After several days, the patient was discharged and had a normal delivery at 38 weeks of gestation. This case report is the first to describe acute pancreatitis occurring in the presence of type IV hyperlipoproteinemia even though the TG level was less than 500 mg/dL, contrary to findings in previously reported cases.

Fenotipo hipertrigliceridemia cintura abdominal alterada y su asociación con los factores de riesgo cardiovasculares / Hypertriglyceridemic waist phenotype and its association with cardiovascular risk factors

Introducción: el fenotipo clínico hipertrigliceridemia cintura abdominal alterada guarda relación con la presencia de hiperinsulinemia, hipertrigliceridemia e hipercolesterolemia, y en consecuencia, es un riesgo de enfermedades cardiovasculares y diabetes mellitus tipo 2. Objetivo: determinar la asociación del fenotipo hipertrigliceridemia cintura abdominal alterada con los principales factores de riesgo cardiovasculares. Material y Métodos: se realizó un estudio descriptivo correlacional, con una muestra probabilística obtenido por un método polietápico. La muestra quedó conformada por 1108 sujetos entre 15 y 74 años, incluidos dentro del componente de vigilancia de enfermedades no transmisibles de la iniciativa CARMEN, pertenecientes al municipio de Cienfuegos. Las variables evaluadas fueron las siguientes: sexo, color de la piel, tabaquismo, hipertensión arterial, obesidad, actividad física, diabetes mellitus, índice de masa corporal, circunferencia abdominal, colesterol total y triglicéridos. Se determinó la razón de prevalencia para las diferentes variables. El nivel de significación exigido fue del 95 por ciento. Resultados: La razón de probabilidad demostró mayor riesgo de presentar el fenotipo en el sexo femenino (2,31), así como en los sujetos mayores de 45 años (2,92), obesos (19,24), hipertensos (2,96) y diabéticos (2,30). Conclusiones: existe una relación significativa entre el fenotipo hipertrigliceridemia cintura abdominal alterada y los principales factores de riesgo cardiovasculares, tales como el incremento de la edad, el índice aterogénico, los niveles de colesterol, la diabetes mellitus y la hipertensión arterial(AU)

Introduction: The hypertriglyceridemic waist phenotype is related to the presence of hyperinsulinemia, hypertriglyceridemia, and hypercholesterolemia and consequently, it is a risk of cardiovascular diseases and type 2 diabetes mellitus. Objective: To determine the association of hypertriglyceridemic waist phenotype with the main cardiovascular risk factors. Material and Methods: A descriptive study was carried out with a probabilistic sample obtained from a multi-stage method. The sample consisted of 1108 subjects between 15 and 74 years old, included in the surveillance component for noncommunicable diseases (NCDs) from the CARMEN initiative in Cienfuegos. The variables evaluated were: sex, skin color, smoking, hypertension, obesity, physical activity, diabetes mellitus, body mass index, abdominal circumference, total cholesterol, and triglycerides. The Prevalence Ratio (PR) was determined for the different variables. The level of significance required was 95 percent. The research was approved by the Scientific Council of the University of Medical Sciences of Cienfuegos and the Research Ethics Committee. The results are presented in tables and figures. Results: PR showed a greater risk of presenting the phenotype in females (2,31), as well as in subjects over 45 years (2,92), obese (19,24), and hypertensive and diabetics for a PR of (2.96 and 2.30), respectively. Conclusions: There is a significant relationship between hypertriglyceridemic waist phenotype and the main cardiovascular risk factors such as increasing age, atherogenic index, cholesterol levels, diabetes mellitus, and hypertension(AU)

A Case of Type IV Hyperlipoproteinemia with Palmar Xanthoma, Tuberous Xanthoma, and Eruptive Xanthoma / 대한피부과학회지

No abstract available.

Xantomatosis eruptiva asociada a hiperlipoproteinemia tipo IV de Fredrickson: a propósito de un caso / Eruptive xanthomatosis associated with Fredrickson type IV hyperlipoproteinemia: case report

Los xantomas cutáneos son una expresión de depósito de lípidos en la piel; pueden ser normolipémicos o dislipémicos, producidos por un defecto genético primario o una alteración metabólica. Las manifestaciones cutáneas de las xantomatosis se presentan con diversas características. Presentamos una paciente joven, sin antecedentes patológicos previos, que consultó por la aparición repentina de lesiones xantomatosas cutáneas, en la cual se arribó al diagnóstico de xantomatosis eruptiva asociadaa trastorno lipídico subyacente. El interés de nuestra presentación radica en que esta afección cutánea puede constituir la única manifestación de las alteraciones de las lipoproteínas, clasificadas dentro del grupo de las dislipidemias de Fredrickson y ser el punto de partida para su diagnóstico y tratamiento oportuno ya que generan un compromiso sistémico y riesgo de vida.

Cutaneous xanthomas are an expression of lipid deposition on the skin. They can be normolipidemic or dyslipidemic and are caused by a primary genetic defect or a metabolic disorder. Cutaneous manifestations of xanthomatosis show various features. We report a young woman with no previous medical history who presented sudden onset of cutaneous xanthomatous lesions, and whose diagnosis showed eruptive xanthomatosis associated with an underlying lipid disorder. The interest of our presentation is that this cutaneous affectation may be the only manifestation of lipoproteins disorders, classified within the group of Fredrickson's dyslipidemias and also the starting point for an appropiate diagnosis and treatment because they generate a systemic commitment and life threatening.

Eruptive Xanthoma in a Child with Type 2 Diabetes Mellitus / 대한피부과학회지

Diabetes mellitus (DM) can be complicated by a variety of cutaneous manifestations. Various xanthoma can appear, according to different subtypes of hyperlipopoteinemia, which is caused by only primary causes, like familial hyperlipoproteinemia, but also secondary causes that is DM, thyroid gland disorder, and diet. Dermatologic findings may even precede any clinical or biological evidence of DM. Thus, cognition of specific dermatologic findings, like xanthoma, can help identify DM, especially in children. We report a case of type IV hyperlipoproteinemia and eruptive xanthoma, associated with DM in a 12-year-old female. She was diagnosed of type IV hyperlipoproteinemia, through a lipid profile, electrophoresis and eruptive xanthoma from a skin biopsy. Although she showed overweight in BMI and had a mother with Type 2 DM, she was too little to have DM, and showed normal urine test. We examined thyroid function test and fasting blood sugar to rule out secondary hyperlipoproteinemia. Fasting blood sugar was increased enough to diagnose her with DM.

Linkage analysis of a family with familial hypertriglyceridemia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To perform linkage analysis and mutation screening in a Chinese family with familial hpertriglyceridemia (FHTG).</p><p><b>METHODS</b>Thirty-two family members including 12 hypertriglyceridemia patients participated in the study. Genotyping and haplotype analysis for 22 subjects were performed using short tandem repeat (STR) microsatellite polymorphism markers on 16 candidate genes and/or loci related to lipid metabolism. Two of the sixteen known candidate genes, APOA2 and USF1 were screened for mutation by direct DNA sequencing.</p><p><b>RESULTS</b>No linkage was found between the candidate genes/loci of APOA5, LIPI, RP1, APOC2, ABC1, LMF1, APOA1-APOC3-APOA4, LPL, APOB, CETP, LCAT, LDLR, APOE and the phenotype in this family. The two-point Lod scores (theta =0) were all less than-1.0 for all the markers tested. Linkage analysis suggested linkage to chromosome 1q23.3-24.2 between the disease phenotype and STR marker D1S194 with a two-point maximum Lod score of 2.44 at theta =0. Fine mapping indicated that the disease gene was localized to a 5.87 cM interval between D1S104 and D1S196. No disease-causing mutation was detected in the APOA2 and USF1 genes.</p><p><b>CONCLUSION</b>The above mentioned candidate genes were excluded as the disease causing genes for this family. The results implied that there might be a novel gene/locus for FHTG on chromosome 1q23.3-1q24.2.</p>

Severe Hypertriglyceridaemia as a Result of familial Chylomicronaemia : the Cape Town Experience

Lipoprotein lipase deficiency causes severe hypertriglyceridaemia due to chylomicronaemia and leads to recurrent and potentially life-threatening pancreatitis. This disorder can only be managed by dietary fat restriction as drugs are ineffective.We review the experience with familial chylomicronaemia in patients who attended the lipid clinics at Groote Schuur Hospital and the Red Cross Children's War Memorial Hospital in Cape Town. The criteria for inclusion were an initial plasma triglyceride concentration of 15 mmol/L and a typical type I Fredrickson hyperlipidaemia pattern on plasma lipoprotein electrophoresis. A total of 29 patients were seen over 25 years. The mean age of presentation was 10 years; but ranged from from 0 to 43 years. The modes of presentation differed: pancreatitis (n=16); eruptive xanthomata (n=2); coincidental detection of hypertriglyceridaemia (n=2); screening relatives (n=7) and after death from pancreatitis (n=1). Plasma triglycerides responded rapidly and dramatically to dietary fat restriction and some patients sustained good control of the hyperlipidaemia.. The onset of pancreatitis was earlier in patients of Indian ancestry suggesting a genotype/phenotype interaction within this disorder. Genetic work-up indicated founder effects in the Afrikaner and Indian patients. Lipaemic plasma should be taken seriously at all ages and necessitates work-up at specialised clinics where the diagnosis of chylomicronaemia or type I hyperlipidaemia facilitates appropriate dietary management that can prevent pancreatitis

A Case of Eruptive Xanthoma Associated withType IV Hyperlipoproteinemia and Koebner Phenomenon / 대한피부과학회지

Type IV hyperlipoproteinemia is characterized by increased blood levels of the triglyceride form of the fat that makes up very low-density lipoproteins (VLDL). Eruptive xanthomas have been frequently observed in type I and V hyperlipoproteinemias but rarely observed in patients with type IV hyperlipoproteinemia. The Koebner phenomenon is the development of the isomorphic skin lesions in persons with certain skin diseases after an injury has occurred on skin of normal appearance. Although this response can develop in psoriasis, lichen planus, verruca etc., it has seldom been associated with eruptive xanthoma. We report a case of eruptive xanthoma with type IV hyperlipoproteinemia and Koebner phenomenon in a 28-year-old Korean male.

A Case of Type IV Hyperlipoproteinemia and Eruptive Xanthoma Associated with Diabetes Mellitus / 대한피부과학회지

We report a case of type IV hyperlipoproteinemia and eruptive xanthoma associated with diabetes mellitus in a 38-year-old male patient. He had multiple, erythematous, yellowish papules on the trunk, extremities and buttocks. Laboratory examinations showed an increase in serum blood glucose, cholesterol and triglyceride. Lipoprotein electrophoresis revealed increased pre-beta bands and a plasma standing test showed turbid plasma. Analysis of lipoprotein revealed an increase of triglyceride levels in the plasma. A skin biopsy from the lesion revealed a xanthoma. We diagnosed the patient as having type IV hyperlipoproteinemia with eruptive xanthoma. After 3 months of treatment with diet restrictions and fenofibrate, the serum level of triglyceride was reduced to a normal level, and the skin lesions disappeared.

Disminución de homocisteína plasmática con vitaminas B6, B12 y ácido fólico. Su efecto en la concentración de los lípidos en pacientes con hiperlipoproteinemia secundaria tipo IV, con y sin tratamiento con Lovastatina / Lowering plasma homocysteine with vitamins B6, B12 and folic acid. Effect on lipids concentration in patients with secondary hyperlipoproteinemia type IV, with and without Lovastatina treatment

Se disminuyó la concentración de homocisteina plasmática mediante el uso oral de vitaminas B6 (300 mg/día), B12 (250μg/dνa) y ácido fólico (10 mg/día), y se estudió su efecto en los lípidos de pacientes con hiperlipoproteinemia secundaria tipo IV, durante 120 días, en 30 pacientes, de 45 a 70 años de edad, con infarto al miocardio. Se dividieron en grupo A (n=15) sin tratamiento con Lovastatina y grupo B (n=15) con el hipolipemiante. La homocisteina basal fue de 17,4±1,0 μmol/L y 16,7±1,0 µmol/L para los grupos A y B respectivamente, disminuyendo un 24% al final del tiempo experimental, en ambos grupos. El colesterol total se redujo por debajo de 220 mg/dl, mientras que los triglicéridos disminuyeron 25,4 mg/dl y 27,0 mg/dl en los grupos A y B respectivamente, por cada µmol/L de homocisteina catabolizada. Las lipoproteínas de baja densidad (LDL) y de muy baja densidad (VLDL) disminuyeron significativamente (p<0,005), mientras que las de alta densidad (HDL) se incrementaron en 1,0 mg/dl para el grupo A y 1,15 mg/dl para el grupo B, por cada μmol/L de homocisteina metabolizada, disminuyendo el riesgo coronario en un 28,5% grupo A y 35,9% grupo B. Se concluye que estas vitaminas disminuyen la concentración de homocisteína plasmática, promoviendo la disminución de la concentración de lípidos y lipoproteínas en este tipo de pacientes; mientras que la Lovastatina no reduce la concentración plasmática del aminoácido; pero si ejerce un efecto sinérgico con las vitaminas en la disminución de la concentración de los lípidos, en el grupo B.

The concentration of plasma homocysteine was diminished by the oral use of vitamins B6 (300 mg/day), B12 (250μg/day) and folic acid (10 mg/day), and the effect was studied in the lipids of patient with hiperlipoproteinemia secondary type IV, during 120 days, in 30 patients, 45 to 70 years old, with myocardial heart attack. They were divided in group A (n=15) without treatment with Lovastatin and group B (n=15) with Lovastatin. Basal homocysteine concentration was 17,4±1,0 µmol/L and 16,7±1,0 µmol/L for the groups A and B respectively, diminishing 24% at the end of the experimental time, in both groups. Total cholesterol decreased below 220 mg/dl, while the triglycerides diminished 25,4 mg/dl and 27,0 mg/dl in groups A and B respectively, by each µmol/L of homocysteine catabolissed. Low density lipoproteins (LDL) and very low density (VLDL) diminished significantly (p<0,005), while the high-density (HDL) increased 1,0 mg/dl in group A and 1,15 mg/dl in group B, for each μmol/L of homocysteine metabolized, lowering the coronary risk factor in 28,5% group A and 35,9% group B. We concluded that these vitamins decreased plasma homocysteine concentration, promoting the lowering of lipids and lipoprotein concentratation in this type of patients; while Lovastatin doesn't reduce homocysteine, but it had a synergic effect with the vitamins, dincreasing the lipid concentration, in group B.

La hipertrigliceridemia familiar no se asocia a mayor prevalencia de complicaciones macrovasculares en la diabetes mellitus tipo 2 / Familial hypertriglyceridemia and diabetes mellitus type 2

La hipertrigliceridemia es un factor de riesgo cardiovascular en la diabetes. Esta anormalidad es causada por varios mecanismos. En la hipertrigliceridemia familiar, la elevación extrema de triglicéridos se debe a acúmulo de lipoproteínas poco aterogénicas. Nuestro objetivo fue comparar el grosor de la capa íntima y media de la carótida y la prevalencia de insuficiencia coronaria o de estenosis carotídea en pacientes diabéticos con hipertrigliceridemia familiar (n=41) vs controles hiperlipidémicos (n=15) o normolipidémicos (n=48) pareados por edad, sexo, tiempo de evolución de la diabetes y otros factores de riesgo cardiovascular. Además se midió la incidencia a cinco años de eventos cardiovasculares. La prueba de esfuerzo resultó anormal en una proporción similar en casos y controles (4.8 vs 6.2%). El grosor de la capa íntima y media de la carótida fue menor en los casos con hipertrigliceridemia familiar (0.55±0.12 vs 0.63±0.22 en controles normolipidémicos y 0.66 ±0.18 mm en controles hiperlipidémicos (p=0.02)). La incidencia de complicación cardiovascular fue similar en los tres grupos. La hipertrigliceridemia familiar no se asocia a un aumento substancial en el número de complicaciones macrovasculares en personas con diabetes tipo 2, pese a la presencia de concentraciones extremas de triglicéridos y niveles bajos de colesterol HDL.

Hypertriglyceridemia is a cardiovascular risk factor in type 2 diabetes. However, this abnormality may be caused by several mechanisms. In familial hypertriglyceridemia, a hyperlipidemia associated with type-2 diabetes, plasma accumulation of non atherogenic particles explains the presence of hypertriglyceridemia. Our objective was to compare the prevalence of coronary insufficiency and carotid artery stenosis in patients with type-2 diabetes with or without familial hypertriglyceridemia. Controls were paired against cases based on age, gender, diabetes duration, treatment and other cardiovascular risk factors. Controls had either a normal lipid profile (n=48) or hyperlipidemia (n=15). The intima media thickness of the carotid arteries was significantly lower in cases compared to controls (0.55±0.12 vs 0.63± 0.22 in normolipidemic controls and 0.66 ±0.18 mm in hyperlipidemic subjects (p=0.02)). Exercise treadmill testing was abnormal in a similar proportion of cases and controls (4.8 vs 6.2%). Incidence of cardiovascular complications was not different between groups. We therefore conclude that severe hypertriglyceridemia due to familial hypertriglyceridemia is not associated with an increased prevalence of symptomatic atherosclerosis in patients with type-2 diabetes.

Efecto de la suplementación con las vitaminas B12, B6 y ácido fólico en los niveles de homocisteina y lípidos plasmáticos en pacientes con hiperlipoproteinemia secundaria tipo IV / Effect of the supplementation of vitamins B12, B6 and folic acid on homocysteine and plasmatic lipics in patients with hyperlipoproteinemic secondary type IV

Los casos de hiperlipoproteinemia secundaria tipo IV se manifiestan por una marcada elevación de triglicéridos, colesterol normal o elevado y homocisteina ligeramente elevada. Se investigó el efecto del suplemento de las vitaminas B12, B6, y ácido fólico, sobre los niveles de homocisteina y lípidos plasmáticos, en 24 pacientes masculinos, edad de 35-68 años inclusive, con hiperlipoproteinemia secundaria tipo IV e isquemia del miocardio, sin previo tratamiento con hipolipemiante. Los pacientes fueron suplementados con dosis terapéuticas en tabletas de vitamina B12, (500 µg/día), B6, (600 mg/día) y ácido fólico (20 mg/día), durante 120 días. Se determinó homocisteina, trigliceridos, colesterol total y fraccionado, a (basal), 30, 60, 90 y 120 días. Se aplicaron análisis estadísticos descriptivos, coeficiente de correlación de Pearson, prueba "t", grado de confianza p<0,005; con programa estadístico SPSS versión 8.0. Los resultados mostraron disminución de homocisteina (basal) de 17,1 µmol/L a 13,18 ± 0,83 µmol/L. Los triglicéridos (TG), colesterol total (CT), lipoprote´nas de baja densidad (LDL), lipoproteínas de muy baja densidad (VLDL) disminuyeron (21,8 mg/dl; 8,5 mg/dl; respectivamente) por µmol/L de homocisteína reducido, con (p<.001) para los triglicéridos, al final del período experimental. Las lipoproteínas de alta densidad (HDL) incrementaron 1,1 mg/dl y el riesgo coronario disminuyó en un 24 por ciento. Se concluye que dosis terapéuticas de las vitaminas B12, B6 y ácido folico, pueden ser efectivas para reducir las concentraciones de homocisteina y lípidos en plasma, con una disminución del riesgo coronario, en este tipo de pacientes, sin que ocurran efectos colaterales de neuropatías

Restrição de sódio na dieta aumenta a lipemia no jejum e pós-alimentar em hipertensos / Dietary salt restriction increases fasting and postprandial lipemia in hypertensive

Dieta hipossódica é recomendada como terapia da hipertensão arterial, mas são relatados efeitos indesejáveis secundários a esta conduta. Avaliamos em 41 hipertensos, leve a moderados, o perfil das lipoproteínas no jejum e após sobrecarga de gordura, depois de uma semana de dieta normossódica e três semanas de dieta hipossódica. Demonstramos que a restrição salina moderada, de 100 mEq/dia, promoveu queda da pressão arterial média, de 24 horas e aumentou atividade plasmática de renina / Sodium restriction is worldwide adviced for hypertension therapy. However it has shown adverse effects. We have evaluated fasting and postprandial lipoprotein profile in 41 mild to moderate hypertensives after 1 week on usual diet and after 3 weeks on low sodium diet. After moderate sodium- reduced diet, 100 mEq/day, there were 24 hour blood pressure decreased and plasmatic renin activity rose. In chilomycrons, we found incresead fasting triglyceride and after fat loading test without changes on cholesterol, increased cholesterol content both on fast and postprandial state and increased apolipoprotein B content only on fasting...

Study on apoE gene polymorphism and subclasses of serum high density lipoprotein in type IV hyperlipidemia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>The aim of the study was to investigate apolipoprotein(apo) E polymorphism and its relationship with serum lipids and apolipoprotein, serum high density lipoprotein(HDL) subclasses in patients with type IV hyperlipidemia.</p><p><b>METHODS</b>apoE genotype was assayed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The subclasses of serum HDL in 103 patients with type IV hyperlipidemia and 146 normolipidemic subjects were determined by two-dimensional gel electrophoresis in conjunction with immunodetection method.</p><p><b>RESULTS</b>The apoE3/3 genotype frequency and allele epsilon 3 frequency were both the highest in the frequency distribution profiles of the type IV hyperlipidemia group and the control group. In type IV hyperlipidemia group, the genotype of apoE2 had higher serum HDL-C,apoE, HDL(2a) apoE/apoCIII ratio but lower TG/HDL-C,apoCIII, HDL(3c) levels when compared with the genotype of apoE(3) (P<0.05). In control group, the genotype of apoE(2) had higher serum TG, apoE levels and apoE/aopCIII ratio but lower HDL (3a) level when compared with the genotype of apoE(3) (P<0.05).</p><p><b>CONCLUSION</b>An association of allele epsilon 2 of apoE gene with the maturation of HDL in type IV hyperlipidemia was noted in the study.</p>

Familial type IV hypertriglyceridemia presenting as hemiparesis with cerebellar signs.

Stroke in pediatric patients is distinctive as compare to adults. The authors report a rare case of familial hypertriglyceridemia type IV who had left hemiparesis with cerebellar signs. There was no history of oral trauma, head injury, convulsions, acute gastroenteritis, meningitis or otitis media.

Hipertrigliceridemia familiar grave durante a gestação / Severe familial hypertriglyceridemia during pregnancy

A presença de hipertrigliceridemia grave durante a gravidez é rara, mas comporta grande possibilidade de desenvolver complicações, como a pancreatite aguda, que coloca em risco a mãe e o feto. Apresentamos o relato da evolução da gestação de uma paciente portadora de hipertrigliceridemia grave que havia apresentado pancreatite aguda dois meses antes da fecundação. Foi tratada durante o pré-natal com dieta e 3,0 g de ácidos graxos de cadeia ômega-3 (ácidos eicosapentaenóico 14 por cento e docosahexaenóico 11,13 por cento). Os níveis de triglicerídeos foram mantidos abaixo de 800 mg/dL, sendo este limite considerado seguro para evitar o desenvolvimento de pancreatite aguda. A gestação evoluiu, sem intercorrências, para parto vaginal, a termo. O recém-nato não apresentou alterações morfológicas ao nascimento. Concluímos que, nesta paciente grávida e portadora de hipertrigliceridemia grave, uma dieta adequada e o emprego de ácidos graxos de cadeia ômega-3 foram eficazes em prevenir a pancreatite aguda. Esta abordagem terapêutica pode ser uma alternativa para as gestantes portadoras de hipertrigliceridemia familiar.