At the present time, cardiovascular disease is a major public health problem in Canada, taking the lives of 78,000 Canadians each year. One of the important risk factors implicated in the pathophysiology of cardiovascular disease is hyperlipoproteinemia. Factors which have been implicated in the etiology of hyperlipoproteinemia include nutritional practices and related demographic variables such as excess body weight, lack of physical activity, smoking, alcohol consumption, abnormal carbohydrate metabolism and family history of heart disease. Although all of the factors cited here have been investigated and their role in the development of hyperlipoproteinemia reported in the literature, the importance of the interrelationship among the individual factors has frequently been overlooked. Also the relationship of these factors to the presence of hyperlipoproteinemia in many cases is poorly understood. A study was designed to investigate the relationship of nutritional practices and related demographic variables to the presence of hyperlipoproteinemia in males aged thirty to sixty years who were admitted to St. Paul's Hospital, Vancouver, British Columbia, for cardiac catheterization. The criterion variables measured in the study were the fasting serum triglyceride level and fasting serum cholesterol level. The variates were categorized as nutritional practices, demographic factors and anthropometric measurements. Nutritional practices included sucrose as percent of total carbohydrate, starch as percent of carbohydrate, P:S ratio, total caloric intake, fat as percent of total calories and alcohol as percent of total calories. The nature of the relationship between the criterion variables and the variates, and amongst the variates themselves, were investigated. Results are based on interviews conducted with 64 subjects between March 1 and October 16, 1975. Sixty-four percent of the subjects exhibited a serum triglyceride level beyond the range accepted as normal by St. Paul's Hospital laboratory while only 3% had abnormally high serum cholesterol levels. The Pearson product moment correlation coefficient revealed a significant correlation between the serum triglyceride and cholesterol concentrations at the 0.002 level of significance. Analysis of t-distribution showed no significant correlation between the presence of hyperlipoproteinemia and the consumption of sucrose as percent of total carbohydrate, starch as percent of total carbohydrate, fat as percent of total calories, alcohol as percent of total calories or P:S ratio. Similarly, the Pearson product moment correlation coefficient failed to show a significant correlation between caloric intake and the presence of hyperlipoproteinemia at the 0.05 level of significance. However, both physical activity and ponderal index were significant factors by t-test analysis, indicating the relationship of both overweight and inactivity to the presence of hyperlipoproteinemia. In addition, correlation analysis revealed a positive correlation between fasting blood glucose and the presence of hyperlipoproteinemia. No correlation was observed with age or smoking and the presence of hyperlipoproteinemia. Implications relative to evaluation of the atherogenic status of an individual and possible reduction of the incidence of hyperlipoproteinemia became apparent from the interpretation of the findings of this study. / Land and Food Systems, Faculty of / Graduate

OBJECTIVE—Absence of stearoyl-CoA desaturase-1 (SCD1) in mice reduces plasma triglycerides and provides protection from obesity and insulin resistance, which would be predicted to be associated with reduced susceptibility to atherosclerosis. The aim of this study was to determine the effect of SCD1 deficiency on atherosclerosis. Methods and RESULTS—Despite an antiatherogenic metabolic profile, SCD1 deficiency increases atherosclerosis in hyperlipidemic low density lipoprotein receptor (LDLR)-deficient mice challenged with a western diet. Lesion area at the aortic root is significantly increased in males and females in two models of SCD1 deficiency. Inflammatory changes are evident in the skin of these mice, including increased intercellular adhesion molecule (ICAM)-1 and ulcerative dermatitis. Increases in ICAM-1 and interleukin-6 are also evident in plasma of SCD1-deficient mice. HDL particles demonstrate changes associated with inflammation, including, decreased plasma apoA-II and apoA-I and paraoxonase-1 and increased plasma serum amyloid A. Lipopolysaccharide-induced inflammatory response and cholesterol efflux are not altered in SCD1-deficient macrophages. In addition, when SCD1 deficiency is limited to bone-marrow derived cells, lesion size is not altered in LDLR-deficient mice. CONCLUSIONS—These studies reinforce the crucial role of chronic inflammation in promoting atherosclerosis, even in the presence of antiatherogenic biochemical and metabolic characteristics. [The original version of this article, along with updated information and services is located on the World Wide Web at: http://atvb.ahajournals.org/cgi/content/full/29/3/341] [UBC users: please click on the UBC eLink icon at the bottom of this record]

Thesis (doctoral)--Katholieke Universiteit te Nijmegen.

The purpose of this study was to investigate whether increased endogenous cholesterol synthesis contributes to the elevated plasma cholesterol levels observed in type III hyperlipoproteinemia (type III HLP). Eight apolipoprotein (apo) E2 subjects with type III HLP and 8 apo E2 non-hyperlipidemic control subjects (controls) were given a priming bolus dose of deuterium oxide (D₂O) (0.7 g D₂O/kg body H2O). Daily M1 (central) pool free cholesterol fractional synthetic rate (FSR) was calculated as the incorporation rate of deuterium from body water into plasma free cholesterol. Blood samples were collected one half hour prior to, and at 12 hour intervals over 48 hours following, the bolus D₂O dose. Drinking water labelled at 1.4 and 0.7 g D₂O/liter H₂O was given on the fed and fasted days, respectively. Over 0-24 hours, subjects consumed a diet of three isocaloric meals which, in composition, approximated average North American intakes. Subjects fasted over 24-48 hours. The deuterium enrichment of plasma free cholesterol and plasma water was determined by isotope ratio mass spectrometry. When all subjects were included, mean (±SEM) free cholesterol overall FSR in type III HLPs (0.031 ± 0.006 per day) was not significantly different from controls (0.037 ± 0.004 per day). Estimated Ml total cholesterol pool size in type III HLPs (26.1 ± 1.9 g) and controls (24.9 ± 0.6 g) was not significantly different. When free cholesterol net synthesis was calculated as the absolute amount of cholesterol synthesized per day, based on Ml total cholesterol pool size, overall free cholesterol net synthesis in type III HLPs (0.304 ± 0.034 g/day) was not significantly different from controls (0.364 ± 0.035 g/day). When all subjects were included, overall free cholesterol FSR and overall free cholesterol net synthesis were significantly greater (p<0.001) in the fed (0.066 ± 0.006 day⁻¹ and 0.655 + 0.048 g/day, respectively) as compared to the fasted state (0.001 ± 0.004 day⁻¹ and 0.010 ± 0.037 g/day, respectively). In the fed state, type III HLPs tended to synthesize cholesterol at a lower rate and in a lower absolute amount as compared to controls, while the reverse was observed in the fasted state. These results suggest that: (1) the elevated plasma cholesterol levels observed in type III HLPs are not due to excess de novo cholesterol synthesis; (2) fasting significantly reduces cholesterol synthesis from the fed state. / Land and Food Systems, Faculty of / Graduate

Abstract Increased plasma cholesterol is a well-known risk factor for cardiovascular diseases in middle and early old age. At older ages, this association seems to disappear. Very few studies have assessed the impact of the lifelong cholesterol burden on old age, the purpose of this thesis. Study populations consisted of 1) old persons with familial hypercholesterolemia (FH), a genetic disorder associated with an increased risk of coronary heart disease (CHD) if untreated, and 2) initially healthy men (The Helsinki Businessmen Study, HBS) followed-up from midlife to old age. A population-based FH cohort, aged&#160;&#8805;&#160;65 years (n=37, aged 65 to 84 years) agreed to participate in this study. All but one of them had been using statin therapy for approx. 15 years. Variables studied were: health-related quality of life (HRQoL) with questionnaires (RAND-36, 15D), a brain magnetic resonance imaging (MRI) scan and cognitive tests (CERAD). These older FH patients enjoyed a similar HRQoL as controls in the general population. Only two (6%) of the older FH patients had clinically silent brain infarcts detected by MRI and those aged 65 to 74 years did not have more white matter hyperintensities (WMHIs) when compared to middle-aged controls. In the cognitive assessments, FH patients, especially those with duration of statin therapy longer than median, even expressed better episodic memory than population controls. HBS consists of a cohort of men (3277 men) who at baseline (1964–1973) were healthy and in their 40s. They were subdivided into seven groups according to baseline total cholesterol value at 1 mmol/L intervals starting from &#8804; &#160;4 mmol/L. In 2000, at a mean age of 73 years, they filled a postal questionnaire including RAND-36. Cumulative mortality data were collected up to January 2010. A strong and graded relation was found between the cholesterol level and total mortality, those men with a cholesterol level &#8804; &#160;4 mmol/L exhibiting the lowest mortality. A low cholesterol value at midlife also predicted a better score in the Physical functioning scale of RAND-36 in old age. In conclusion, in initially healthy men, a low cholesterol value at midlife was associated with better survival and better physical function in old age. Despite their genetic risk, FH patients on long-term statin medication seemed to enjoy a health and cognitive status similar to the general population. / Tiivistelmä Suurentunut plasman kolesterolipitoisuus on tunnettu valtimotautien riskitekijä keski-iässä, mutta vanhuusiässä kolesterolin merkitys näyttää vähentyvän. Hyvin harvassa tutkimuksessa on tutkittu elämänaikaisen kolesterolitason vaikutuksia vanhuusiän terveydentilaan, kuten tässä väitöskirjatyössä. Tutkimuskohteina olivat 1) iäkkäät, joilla on familiaalinen hyperkolesterolemia (FH) eli perinnöllinen sairaus, johon hoitamattomana liittyy lisääntynyt sepelvaltimotaudin riski, sekä 2) alun perin terveet miehet (Helsingin Johtajatutkimus), joita seurattiin keski-iästä vanhuuteen. Väestöpohjainen, 65 vuotta täyttänyt (65–84 vuotta, 37 henkilöä) FH-potilaiden ryhmä oli yhtä lukuun ottamatta käyttänyt keskimäärin 15 vuoden ajan statiinilääkitystä. Heille tehtiin seuraavat tutkimukset: terveyteen liittyvän elämänlaadun kyselyt (RAND-36- ja15D-mittarit), aivojen magneettitutkimus (MRI) ja kognitiota tutkivat testit (CERAD). FH-potilaiden elämänlaatu ei eronnut väestöverrokeista. Aivojen MRI tutkimuksessa vain kahdella (6&#160;%) FH-potilaalla oli todettavissa kliinisesti hiljainen aivoinfarkti ja 65–74-vuotiailla FH-potilailla ei ollut enempää valkean aineen muutoksia kuin keski-ikäisillä verrokeilla. Kognitiotutkimuksissa FH-potilailla oli parempi episodinen muisti kuin väestöverrokeilla, etenkin niillä FH-potilailla, joiden statiinihoidon kesto oli mediaania pidempi. Helsingin Johtajatutkimukseen kuului alun perin 3 277 lähtötilanteessa (1964–1973) tervettä keski-ikäistä miestä. Heidät jaettiin lähtövaiheen kolesterolitason perusteella seitsemään ryhmään yhden millimoolin välein siten, että alin ryhmä oli alle 4 mmol/l. Vuonna 2000 (keski-ikä 73 vuotta) lähetettiin postikysely, johon kuului myös RAND-36. Kokonaiskuolleisuutta seurattiin tammikuuhun 2010 asti. Kokonaiskuolleisuuden ja keski-iän kokonaiskolesterolin välillä oli vahva ja asteittainen suhde siten, että niillä miehillä oli pienin kuolleisuus, joilla oli alin kolesteroli (alle 4 mmol/l). Pienin kolesterolipitoisuus keski-iässä oli myös yhteydessä RAND-36-mittarin Fyysinen toimintakyky -osion parempaan pistemäärään. Yhteenveto: Alun perin terveillä miehillä pieni kolesterolipitoisuus keski-iässä ennusti pitempää elämää ja myös parempaa fyysisistä toimintakykyä vanhalla iällä. Huolimatta perinnöllisestä riskistä oli pitkäaikaista statiinilääkitystä käyttäneiden FH-potilaiden terveydentila muuta väestöä vastaava.

Lan Wei. / Thesis (Ph.D.)--Chinese University of Hong Kong, 2000. / Includes bibliographical references (leaves 260-301). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Photocopy. Ann Arbor, Mich. : UMI Dissertation Services, 2002. xx, 301 p. : ill. ; 22 cm. / Abstracts in English and Chinese.

A Hipercolesterolemia Familiar (HF) é uma doença caracterizada por aterosclerose precoce. Contudo, o curso clínico da doença coronária na HF é variável. A detecção da aterosclerose subclínica, pela espessura íntima média (IMT) carotídea, calcificação da artéria coronariana (CAC) e da rigidez arterial pela velocidade de onda de pulso (VOP) em portadores de HF pode ser útil na estratificação do risco cardiovascular. O objetivo primário deste estudo foi avaliar se existe correlação da CAC, IMT e VOP em portadores de HF. Como objetivos secundários, comparar estes marcadores de aterosclerose subclínica nos HF em relação a controles pareados por idade e sexo (CTRL) e avaliar quais são os principais fatores que influenciam a VOP carotídeo-femoral a IMT carotídea e a CAC, em pacientes com HF. Material e Métodos: Analisamos 89 HF (39±14 anos, 38% homens, LDL-c médio de 279 mg/dL) e 31 controles pareados para sexo e idade (CTRL) (LDL-c médio de 102mg/dL). Determinamos o IMT pela ultra-sonografia de alta definição tipo \"echotracking\" (Wall-Track System2), a VOP pelo método Complior®, CAC pela tomografia de múltiplos detectores, perfil lipídico e variáveis bioquímicas como Lp(a), PCR as, apoA1 e apoB. Foram calculados respectivamente o risco de DAC em 10 anos e a carga de exposição ao colesterol pelos escore de Framingham (ERF) e pelo índice LDL-c x idade (LYS). Resultados: Os HF apresentaram maior ERF (%) (7 ± 3 vs. 3 ± 3, p=0,002), maior prevalência de CAC (34% vs. 12%, p=0,024), maior IMT (micra m) (653 ± 160 vs 593 ±111, p=0,027), maior VOP (m/s) (9,2 ±1,5 vs. 8,5 ± 0,9, p=0.007) e glóbulos brancos mais elevados (x109 células/L) (7,2 ± 2,0 vs 6,4 ± 1,5, p=0,046) do que CTRL. Não foram observadas diferenças de PCR as respectivamente 1,7 (0,2-3,4 mg/L) e 1,3 (0,2-8,0 mg/L), p=n.s. para HF e CTRL. Na análise multivariada os determinantes da IMT foram: pressão arterial sistólica. (r2=0,36, p=0,045), ERF (r2=0,26, p=0,0001) e Apo B (r2=0,32, p=0,02). A idade foi o único determinante da VOP (r2=0,37, p=0,0001). Os determinantes independentes da CAC como variável contínua foram: sexo masculino (r2=0,36, p=0,0027) e LYS (r2=0,29, p=0,0001). Os determinantes da presença ou ausência de CAC foram: estimativa de risco de DAC em 10 anos do ERF (P=0,0027) e o produto LDL-c X Idade (p=0,0228). Conclusão: Não foram encontradas correlações entre CAC, como variável continua ou categórica, IMT, VOP, na população com HF. Pacientes com HF têm maior prevalência de aterosclerose subclínica que os CTRL. / Familial hypercholesterolemia (FH) is associated with early onset of coronary heart disease (CHD). Detection of subclinical atherosclerosis (SCA) could be useful for risk stratification in FH subjects. The relationship among carotid, aortic and coronary SCA was not yet explored in FH. We studied the correlation among common carotid intima-media thickness (IMT), coronary artery calcification (CAC) and arterial stiffness (carotid-femoral pulse wave velocity-PWV) and their determinants in FH subjects. Methods: 89 FH subjects (39±14 Years, 38% male, median LDL-c = 279 mg/dL) and in 31 normal matched controls (NL) (median LDL-c 102mg/dL) were studied. IMT was determined by the Wall-Track System2, aortic stiffness (PWV) with the Complier® method, CAC prevalence and severity were measured by multidetector computed tomography. Clinical and laboratory variables (lipids, apolipoprotein AI and B, Lp(a), glucose, hsCRP and WBC) were determined. The 10-year CHD risk was calculated by Framingham scores (FRS) and the age-cholesterol burden by the LDL-cholesterol year score (LYS=LDL-c x age). Results: FH subjects had a greater FRS (%) (7 ± 3 vs. 3 ± 3, p=0.002), higher prevalence of CAC (34% vs. 12%, p=0.024), greater IMT values (micra m) (653 ± 160 vs 593 ±111, p=0.027), higher PWV (m/s) (9.2 ±1.5 vs. 8.5 ± 0.9, p=0.007) and white blood cels (x109 cels/L) (7.2 ± 2.0 vs 6.4 ± 1.5, p=0.046) than NL. No difference were found in median hsCRP levels (mg/L) respectively 1.7 (0.2-3.4) and 1.3 (0.2-8.0) p=n.s. for FH and NL. By multivariate analyses the following variables were independent determinants of: 1)IMT: systolic blood pressure (r2=0.36, p=0.045), FRS (r2=0.26, p=0.0001) and apolipoprotein B (r2=0.32, p=0.02). 2)PWV: age (r2=0.37, p=0.0001). 3)CAC as a continuous variable: male gender (r2=0.36, p=0.0027) and LYS (r2=0.29, p=0.0001). 4)Presence of CAC as a dichotomous variable: FRS (P=0.0027) and LYS (p=0.0228). Conclusions: No correlations was found among CAC either as a continuous or a dichotomous category, IMT, PWV, in FH subjects and clinical parameters poorly explained their variability, however subclinical atherosclerosis is more prevalent in FH than NL.

A Hipercolesterolemia Familiar (HF) é uma doença caracterizada por aterosclerose precoce. Contudo, o curso clínico da doença coronária na HF é variável. A detecção da aterosclerose subclínica, pela espessura íntima média (IMT) carotídea, calcificação da artéria coronariana (CAC) e da rigidez arterial pela velocidade de onda de pulso (VOP) em portadores de HF pode ser útil na estratificação do risco cardiovascular. O objetivo primário deste estudo foi avaliar se existe correlação da CAC, IMT e VOP em portadores de HF. Como objetivos secundários, comparar estes marcadores de aterosclerose subclínica nos HF em relação a controles pareados por idade e sexo (CTRL) e avaliar quais são os principais fatores que influenciam a VOP carotídeo-femoral a IMT carotídea e a CAC, em pacientes com HF. Material e Métodos: Analisamos 89 HF (39±14 anos, 38% homens, LDL-c médio de 279 mg/dL) e 31 controles pareados para sexo e idade (CTRL) (LDL-c médio de 102mg/dL). Determinamos o IMT pela ultra-sonografia de alta definição tipo \"echotracking\" (Wall-Track System2), a VOP pelo método Complior®, CAC pela tomografia de múltiplos detectores, perfil lipídico e variáveis bioquímicas como Lp(a), PCR as, apoA1 e apoB. Foram calculados respectivamente o risco de DAC em 10 anos e a carga de exposição ao colesterol pelos escore de Framingham (ERF) e pelo índice LDL-c x idade (LYS). Resultados: Os HF apresentaram maior ERF (%) (7 ± 3 vs. 3 ± 3, p=0,002), maior prevalência de CAC (34% vs. 12%, p=0,024), maior IMT (micra m) (653 ± 160 vs 593 ±111, p=0,027), maior VOP (m/s) (9,2 ±1,5 vs. 8,5 ± 0,9, p=0.007) e glóbulos brancos mais elevados (x109 células/L) (7,2 ± 2,0 vs 6,4 ± 1,5, p=0,046) do que CTRL. Não foram observadas diferenças de PCR as respectivamente 1,7 (0,2-3,4 mg/L) e 1,3 (0,2-8,0 mg/L), p=n.s. para HF e CTRL. Na análise multivariada os determinantes da IMT foram: pressão arterial sistólica. (r2=0,36, p=0,045), ERF (r2=0,26, p=0,0001) e Apo B (r2=0,32, p=0,02). A idade foi o único determinante da VOP (r2=0,37, p=0,0001). Os determinantes independentes da CAC como variável contínua foram: sexo masculino (r2=0,36, p=0,0027) e LYS (r2=0,29, p=0,0001). Os determinantes da presença ou ausência de CAC foram: estimativa de risco de DAC em 10 anos do ERF (P=0,0027) e o produto LDL-c X Idade (p=0,0228). Conclusão: Não foram encontradas correlações entre CAC, como variável continua ou categórica, IMT, VOP, na população com HF. Pacientes com HF têm maior prevalência de aterosclerose subclínica que os CTRL. / Familial hypercholesterolemia (FH) is associated with early onset of coronary heart disease (CHD). Detection of subclinical atherosclerosis (SCA) could be useful for risk stratification in FH subjects. The relationship among carotid, aortic and coronary SCA was not yet explored in FH. We studied the correlation among common carotid intima-media thickness (IMT), coronary artery calcification (CAC) and arterial stiffness (carotid-femoral pulse wave velocity-PWV) and their determinants in FH subjects. Methods: 89 FH subjects (39±14 Years, 38% male, median LDL-c = 279 mg/dL) and in 31 normal matched controls (NL) (median LDL-c 102mg/dL) were studied. IMT was determined by the Wall-Track System2, aortic stiffness (PWV) with the Complier® method, CAC prevalence and severity were measured by multidetector computed tomography. Clinical and laboratory variables (lipids, apolipoprotein AI and B, Lp(a), glucose, hsCRP and WBC) were determined. The 10-year CHD risk was calculated by Framingham scores (FRS) and the age-cholesterol burden by the LDL-cholesterol year score (LYS=LDL-c x age). Results: FH subjects had a greater FRS (%) (7 ± 3 vs. 3 ± 3, p=0.002), higher prevalence of CAC (34% vs. 12%, p=0.024), greater IMT values (micra m) (653 ± 160 vs 593 ±111, p=0.027), higher PWV (m/s) (9.2 ±1.5 vs. 8.5 ± 0.9, p=0.007) and white blood cels (x109 cels/L) (7.2 ± 2.0 vs 6.4 ± 1.5, p=0.046) than NL. No difference were found in median hsCRP levels (mg/L) respectively 1.7 (0.2-3.4) and 1.3 (0.2-8.0) p=n.s. for FH and NL. By multivariate analyses the following variables were independent determinants of: 1)IMT: systolic blood pressure (r2=0.36, p=0.045), FRS (r2=0.26, p=0.0001) and apolipoprotein B (r2=0.32, p=0.02). 2)PWV: age (r2=0.37, p=0.0001). 3)CAC as a continuous variable: male gender (r2=0.36, p=0.0027) and LYS (r2=0.29, p=0.0001). 4)Presence of CAC as a dichotomous variable: FRS (P=0.0027) and LYS (p=0.0228). Conclusions: No correlations was found among CAC either as a continuous or a dichotomous category, IMT, PWV, in FH subjects and clinical parameters poorly explained their variability, however subclinical atherosclerosis is more prevalent in FH than NL.

Le syndrome de chylomicronémie multifactorielle (MCS) est une maladie complexe au cours de laquelle les valeurs de triglycérides (TG) dépassent 10 mmol/L. Le MCS se manifeste à l'âge adulte et a une prévalence d’environ 1 adulte sur 600 au Québec. Deux conditions doivent être réunies pour développer cette maladie : une composante génétique (oligogénique ou polygénique) ainsi que la présence de facteurs de risque reliés au style de vie (une alimentation riche en gras et en sucres raffinés, une consommation excessive d'alcool, un diabète non contrôlé ou l'obésité). Le MCS est une condition de santé grave, puisqu’il augmente considérablement le risque de pancréatites aigües et peut doubler le risque de maladies cardiovasculaires. Actuellement, il n’y a pas d’étude d’intervention nutritionnelle, réalisée dans cette population, qui permette de connaitre l’approche nutritionnelle la plus bénéfique. Ce mémoire présente les résultats d’une étude croisée randomisée dont l’objectif était d’évaluer l’impact d’une diète faible en lipides et d’une diète faible en glucides sur le profil lipidique à jeun et postprandial chez des patients atteints de MCS en fonction de la présence d’un variant rare à l’état hétérozygote du gène de la lipoprotéine lipase (LPL). Les résultats de cette étude suggèrent qu’une diète faible en lipides permettrait une diminution plus importante des TG chez les sujets porteurs d’un variant rare à l’état hétérozygote de la LPL et pourrait ultimement contribuer à réduire le risque de pancréatite aigüe sur le long terme. / Multifactorial chylomicronemia syndrome (MCS) is a complex disease in which triglyceride (TG) values exceed 10 mmol/L. MCS occurs in adulthood and has a prevalence of approximately 1 in 600 adults in Quebec. Two conditions must be met to develop this disease: a genetic component (oligogenic or polygenic) as well as the presence of lifestyle risk factors (a diet high in fat and refined sugars, excessive alcohol consumption, uncontrolled diabetes or obesity). MCS is a serious health condition, as it significantly increases the risk of acute pancreatitis and can double the risk of cardiovascular disease. Currently, there are no nutritional intervention studies conducted in this population to determine the most beneficial nutritional approach. This thesis presents the results of a randomized crossover study whose objective was to evaluate the impact of a low-fat diet and a low-carbohydrate diet on the fasting and postprandial lipid profile in patients with SCD according to the presence of a rare heterozygous lipoprotein lipase (LPL) gene variant. The results of this study suggest that a low-fat diet would result in a greater reduction in TGs in subjects with a rare heterozygous variant of LPL and may ultimately help reduce the risk of acute pancreatitis in the long term.

No description available.