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La hipobetalipoproteinemia familiar (HBF) es un trastorno infrecuente, con un patrón de herencia heterogéneo, que da origen a valores anormalmente disminuidos de apoproteína (apo) B, colesterol total o lipoproteínas de baja densidad (c-LDL). Los pacientes portadores de mutaciones en el gen APOB (2p24) en heterozigosis suelen ser asintomáticos, pero aquellos que las portan en homozigosis pueden presentar diferentes alteraciones clínicas, debidas a la malabsorción de grasas y deficiencia de vitaminas liposolubles. Se presenta un varón asintomático de 8 años y 7 meses de edad con disminución de los niveles de colesterol total, triglicéridos, c-LDL, lipoproteínas de muy baja densidad (c-VLDL) y apo-B, así como deficiencia de vitamina E. Un total de 3 familiares también asintomáticos presentaron niveles disminuidos de colesterol total, c-LDL y apo-B. La secuenciación del gen APOB demostró, tanto en el paciente como en los 3 familiares afectados, una mutación en heterozigosis en el exón número 26 (G → T). El estudio genético familiar en la HBF puede ser útil para la detección de los portadores homozigotos y la instauración de tratamiento precoz

Familial hypobetalipoproteinemia (FHB) is a rare genetically heterogeneous disorder provoking abnormally low serum levels of apoprotein (apo) B, total cholesterol, and low-density lipoprotein (LDL-C). Patients carrying heterozygous mutations in the APOB (2p24) gene are usually asymptomatic, but homozygous mutations cause clinical disturbances as a result of intestinal fat malabsorption and fat-soluble vitamin deficiency. We present an asymptomatic boy, aged 8 years and 7 months, with low serum levels of apo-B, total cholesterol, triglyceride, LDL-C and very low-density lipoprotein (VLDL-C), as well as vitamin E deficiency. Three asymptomatic relatives also exhibited low apo-B, total cholesterol and LDL-C levels. The APOB (2p24) gene was fully sequenced, demonstrating a heterozygous mutation in exon 26 (G → T) in all four members of this family. Familial genetic studies in FHB could be useful in the early detection and treatment of homozygous carriers

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El aceite de oliva es un componente fundamental de la dieta mediterránea y su consumo está relacionado con una mayor esperanza de vida. Nuestro país es el mayor productor mundial aunque su consumo representa solo una mínima parte de las grasas consumidas por persona. El aceite de oliva virgen tiene propiedades beneficiosas en el organismo humano, debido, tanto a su fracciónoleosa (ácido oleico, fundamentalmente), como a los componentes de su fracción no oleosa, comportándose como un agente cardioprotector. También tiene efectos beneficiosos sobre el metabolismo lipídico, oxidación celular, coagulación, diabetes y algunos tipos de cáncer

Olive oil is a basic component of the Mediterranean diet and its consumption is related to a better life expectancy. Although Spain is the main producting country, olive oil is only a little portion of individual fat intake. Virgin olive oil has beneficial properties for human organism due to the cardioprotective effects of both oily fraction components (oleic acid essentially) and non-oily fraction components. Virgin olive has also beneficial on lipid metabolism, cellular oxidation, coagulation, diabetes and different types of cancer

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1. Essential hypertension is associated with increased intracellular sodium in both erythrocytes and leucocytes. Reports in the literature indicate that increasing the level of polyunsaturated fat in the diet reduces hypertension. In the present study, spontaneously hypertensive rats (Wistar-Kyoto, which develop systolic blood pressures in excess of 140 mmHg by 8 weeks of age) were fed on high-fat diets (40% energy derived from fat), the fat being maize oil (high in polyunsaturated fatty acids, PUFA) and coconut oil (low in PUFA). 2. Significantly higher blood pressures developed by 110 d of age in the rats fed on a high-PUFA diet, compared with those fed on the low-PUFA diet. 3. In thymocytes, ouabain-sensitive efflux rate constants were significantly lower in the group fed on the high-PUFA diet. Ouabain-insensitive efflux rate constants were unaffected by diet.

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Evidence linking the beneficial effect of dietary polyunsaturated fat on systolic and distolic blood pressure is reported. Under controlled dietary conditions, i.e., when the polyunsaturated fat to saturate fat ratio (P/S) is maintained at about 1.0, with fat providing 25% of total energy intake, blood pressure is significantly lowered in healthy males and females in the 40- to 60-year age group. The subjects selected for these studies were either normotensive or mildly hypertensive. When the subjects resumed their usual diets, their blood pressures reverted to baseline values. Body weights of the subjects remained relatively constant in these studies, and sodium chloride intakes averaged 8 to 12 g per day. It is suggested that the lowering of blood pressure by dietary linoleic acid is mediated through prostaglandins.

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The aim of this review is to summarize recent findings concerning the effects of fat-modified diets on serum lipoproteins, especially on high density lipoprotein (HDL) and low density lipoprotein (LDL) cholesterol concentrations. Generally, both HDL and LD cholesterol are reduced in subjects on diets enriched in polyunsaturated fatty acids (PUFA diets). The only exceptions to this rule are hypertriglyceridaemic patients with low HDL or LDL concentrations. The changes in HDL and LDL cholesterol are inversely related to the respective HDL and LDL concentrations before dietary treatment. Increasing HDL cholesterol concentrations are seen only during simultaneous body weight reduction. Low HDL cholesterol concentrations are not normalized on PUFA diets. The ratio of LDL cholesterol to HDL cholesterol shows only marginal changes during treatment with a PUFA diet. Thus we cannot clearly state how a lipid-lowering diet might contribute to the anti-atherogenic effect which seems to be characteristic of this type of diet, on the basis not of the change in fasting serum lipoprotein concentrations, but of epidemiological and experimental data.

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An average reduction in serum cholesterol approximating 10 per cent was achieved in a short-term, family-centered study in which intakes of cholesterol and saturated fats were decreased and sunflower oil and margarine were added as the major sources of polyunsaturated fats. Dietary Achievement Scores demonstrated shifts in food consumption between baseline and diet periods. Changes were evident in all fat-containing food groups; meat was the least altered. A high degree of cooperation was evident in participating families, implying the possibilities for complete family cooperation in preventive or therapeutic dietary programs. Approximately three months after the end of the test period, cholesterol levels had returned to pre-diet levels, indicating the need for continuation of the changed regimen if cholesterol-lowering is to be maintained.

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Fifteen patients with Fredrickson's type IIb hyperlipoproteinaemia were subjected to a 10-week dietary study during which time qualitative and quantitative alterations were carried out on the fat, carbohydrate and energy content of the diet. Significant reduction was observed in fasting serum cholesterol and triglyceride levels on substitution of polyunsaturated for saturated fat, and on total fat restriction. No changes in cholesterol and triglyceride levels were observed when dietary sucrose was replaced with complex carbohydrate, or when there was total carbohydrate restriction. The possible practical applications of these observations are discussed.

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