Performance of the enhanced Sampson-NIH equation for VLDL-C and LDL-C in a population with familial combined hyperlipidemia.

INTRODUCTION: Low-density cholesterol (LDL-C) has long been estimated by the Friedewald formula (F-LDL-C); however, this method underestimates LDL-C in patients with hypertriglyceridemia (HTG) or low LDL-C levels. The Martin (M-LDL-C) and Sampson (S-LDL-C) formulas partially resolve these limitations. Recently, Sampson et al. developed a new equation (eS-VLDL-C) that includes ApoB. This new equation could be particularly useful in FCHL, which is characterized by the predominance of triglyceride-rich VLDL and a discordance between LDL-C and ApoB. METHODS: Very low-density lipoproteins (VLDL-C) was measured in 336 patients with FCHL by sequential ultracentrifugation. LDL-C was estimated by subtracting VLDL-C, estimated by the different equations, from non-HDL cholesterol. Spearman correlations, R2, mean squared error (RMSE), and bias were used to compare the accuracy of the different equations. Concordance of the estimated LDL-C values with LDL-C thresholds and ApoB was also assessed by their kappa coefficients and ROC analysis. RESULTS: Overall population had a mean age of 47 years, and 61.5% were women. 19.5% had type 2 diabetes, hypertension was present in 20.8%, and only 12.2% were on statin treatment. Both S-LDL-C and eS-LDL-C performed similarly, and better than M-LDL-C and F-LDL-C. In Bland-Altman analysis, eS-LDL-C showed the lowest bias, better performance in HTG, and better concordance with LDL-C treatment goals compared to other formulas (e.g. ρ: 0.87, 95% CI 0.84-0.89). CONCLUSIONS: LDL-S and LDL-eS equations estimate the concentration of LDL-C with greater accuracy than other formulas. The LDL-eS has best performance in estimating LDL-C with lower RMSE than other formulas.

Polygenic architecture and cardiovascular risk of familial combined hyperlipidemia.

BACKGROUND AND AIMS: Familial combined hyperlipidemia (FCHL) is one of the most common inherited lipid phenotypes, characterized by elevated plasma concentrations of apolipoprotein B-100 and triglycerides. The genetic inheritance of FCHL remains poorly understood. The goals of this study were to investigate the polygenetic architecture and cardiovascular risk associated with FCHL. METHODS AND RESULTS: We identified individuals with an FCHL phenotype among 349,222 unrelated participants of European ancestry in the UK Biobank using modified versions of 5 different diagnostic criteria. The prevalence of the FCHL phenotype was 11.44% (n = 39,961), 5.01% (n = 17,485), 1.48% (n = 5,153), 1.10% (n = 3,838), and 0.48% (n = 1,688) according to modified versions of the Consensus Conference, Dutch, Mexico, Brunzell, and Goldstein criteria, respectively. We performed discovery, case-control genome-wide association studies for these different FCHL criteria and identified 175 independent loci associated with FCHL at genome-wide significance. We investigated the association of genetic and clinical risk with FCHL and found that polygenic susceptibility to hypercholesterolemia or hypertriglyceridemia and features of metabolic syndrome were associated with greater prevalence of FCHL. Participants with an FCHL phenotype had a similar risk of incident coronary artery disease compared to participants with monogenic familial hypercholesterolemia (adjusted hazard ratio vs controls [95% confidence interval]: 2.72 [2.31-3.21] and 1.90 [1.30-2.78]). CONCLUSIONS: These results suggest that, rather than being a single genetic entity, the FCHL phenotype represents a polygenic susceptibility to dyslipidemia in combination with metabolic abnormalities. The cardiovascular risk associated with an FCHL phenotype is similar to that of monogenic familial hypercholesterolemia, despite being ∼5x more common.

Familial combined hyperlipidaemia/polygenic mixed hyperlipidaemia. / Hiperlipemia familiar combinada/hiperlipemia mixta poligénica.

Familial combined hyperlipidaemia (FCH) is the most prevalent form of familial hyperlipidaemia with a multigenic origin and a complex pattern of inheritance. In this respect, FCH is an oligogenic primary lipid disorder due to interaction of genetic variants and mutations with environmental factors. Patients with FCH are at increased risk of cardiovascular disease and often have other associated metabolic conditions. Despite its relevance in cardiovascular prevention, FCH is frequently underdiagnosed and very often undertreated. In this review, emphasis is placed on the most recent advances in FCH, in order to increase its awareness and ultimately contribute to improving its clinical control.

Familial hypercholesterolemia and young patients' thoughts on own condition and treatment.

OBJECTIVES: Familial hypercholesterolemia (FH) is a hereditary and usually asymptomatic condition characterized by elevated blood cholesterol and increased risk of premature cardiovascular disease. It is treated with dietary modifications and lipid lowering drugs. The objective was to learn about young FH patients' perceptions and choices regarding treatment. METHODS: Data were collected through in-depth interviews with 24 patients (ages 16-35), and analysed according to Grounded Theory. RESULTS: The findings are presented as theoretical concepts describing the participants' way of handling their condition. The core category was identified as "Thoughts of consequences vs. Postponing thoughts of consequences", which could be described through the following subcategories: 1. Normalising the condition, 2. Belittling of treatment vs. Committed to treatment and 3. Trust in advice vs. Avoid unnecessary interference. The participants' position regarding these categories was described to affect motivation and challenges with treatment. CONCLUSIONS: Participants who postpone the thoughts of consequences, belittle the treatment and avoid unnecessary interference represent a challenge to health care practitioners. PRACTICAL IMPLICATIONS: Practitioners should explore aspects such as thoughts of consequences, view of treatment and the feeling of interference to be able to better understand illness behaviour, adjust their communication and hopefully improve adherence.

Performance of LDL-C calculated with Martin's formula compared to the Friedewald equation in familial combined hyperlipidemia.

BACKGROUND AND AIMS: A novel method to estimate low density lipoprotein cholesterol (LDL-C) has been proposed by Martin et al. This may permit a more accurate estimation of cardiovascular risk, however, external validation is needed. Here, the performance of LDL-C using this new method (LDL-N) is compared with LDL-C estimated with Friedewald equation (LDL-F) in familial combined hyperlipidemia (FCHL), a common primary dyslipidemia in which apolipoprotein B containing particle composition is abnormal and interferes with LDL-C estimation. METHODS: A total of 410 FCHL subjects were included. LDL-C was estimated with both the Friedewald equation (LDL-F) and the novel formula (LDL-N). Apolipoprotein B levels and non- HDL-C were recorded. The correlation and concordance between LDL-F and LDL-N and both Apolipoprotein B and non-HDL-C levels were calculated. Analysis stratifying for triglyceride tertiles and FCHL lipid phenotypes was also carried out. RESULTS: The correlations between LDL-N and Apo B and non-HDL-C were ρ = 0.777 (95%CI 0.718-0.825) and ρ = 0.735 (95%CI 0.648-0.816), respectively. The corresponding correlations for LDL-F were ρ = 0.551(95%CI 0.454-0.637) and ρ = 0.394 (95%CI 0.253-0.537), respectively. In mixed dyslipidemia or isolated hypertriglyceridemia, these correlations were significantly better using LDL-N. With respect to concordance, LDL-N performed significantly better than LDL-F when considering apoB <90 mg/dL (κLDL-N = 0.495 vs. κLDL-F = 0.165) and non-HDL-C <130 (κLDL-N = 0.724 vs. κLDL-F = 0.253). CONCLUSIONS: In FCHL, LDL-C estimation using Martin's formula showed greater correlation and concordance with non-HDL-C and Apo B compared with the Friedewald equation.

Relationship Between Total Serum Bilirubin Levels and Carotid and Femoral Atherosclerosis in Familial Dyslipidemia.

OBJECTIVE: Bilirubin is a potent antioxidant that has been inversely related to cardiovascular disease. There is little information on serum total bilirubin (TB) in relation to atherosclerosis in familial dyslipidemia. We assessed the association between TB and carotid and femoral atherosclerosis in this high-risk group. APPROACH AND RESULTS: We evaluated 464 individuals with familial dyslipidemia (56% men; median age, 48 years), 322 with familial hypercholesterolemia, and 142 with familial combined hyperlipidemia. Carotid and femoral arteries were imaged bilaterally with a standardized ultrasonographic protocol. Mean and maximum intima-media thickness and plaque presence (≥1.2 mm) and height were recorded. Cross-sectional associations between TB and atherosclerosis variables were investigated in multivariable-adjusted models, including lipid values and hypolipidemic drug use. Inflammatory markers (C-reactive protein, total leukocyte count, and lipoprotein[a]) were also determined. Increasing TB levels were associated with decreasing intima-media thickness of all carotid segments (P<0.05, all). TB also related to carotid plaque, present in 78% of individuals, and to plaque burden (≥3 plaques), with odds ratios (95% confidence interval) 0.59 (0.36-0.98) and 0.57 (0.34-0.96) for each increase of 0.5 mg in TB, respectively. Findings were confirmed in a validation cohort of 177 subjects with nonfamilial dyslipidemia. Only the familial combined hyperlipidemia group, with higher inflammation-related markers, showed an inverse association between TB and femoral plaque height (ß=-0.183; P=0.030). CONCLUSIONS: TB was inversely and independently associated with carotid plaque burden in familial and nonfamilial dyslipidemia. These findings support the use of TB as a biomarker of atherosclerosis in this high-risk group.

Familial combined hyperlipidemia and hyperlipoprotein(a) as phenotypic mimics of familial hypercholesterolemia: Frequencies, associations and predictions.

BACKGROUND: A significant proportion of index cases presenting with phenotypic familial hypercholesterolemia (FH) are not found to have a pathogenic mutation and may have other inherited conditions. OBJECTIVES: Familial combined hyperlipidemia (FCHL) and elevated lipoprotein(a) [Lp(a)] may mimic FH, but the frequency and correlates of these disorders among mutation-negative FH patients have yet to be established. METHODS: The frequency of FCHL and elevated Lp(a) was investigated in 206 FH mutation-negative index cases attending a specialist lipid clinic. An FCHL diagnostic nomogram was applied to each index case; a positive diagnosis was made in patients with a probability score exceeding 90%. Plasma Lp(a) concentration was measured by immunoassay, with an elevated level defined as ≥0.5 g/L. Clinical characteristics, including coronary artery disease (CAD) events, were compared between those with and without FCHL and hyper-Lp(a). RESULTS: Of mutation-negative FH patients, 51.9% had probable FCHL. These patients were older (P = .002), had a higher BMI (P = .019) and systolic (P = .001) and diastolic blood pressures (P = .001) compared with those without FCHL. Elevated Lp(a) was observed in 44.7% of cases, and there were no significant differences in clinical characteristics with Lp(a) status. The presence of elevated Lp(a) (P = .002), but not FCHL, predicted CAD events. This association was independent of established CAD risk factors (P = .032). CONCLUSION: FCHL and elevated Lp(a) are common disorders in patients with mutation-negative FH. Among such patients, FCHL co-expresses with components of the metabolic syndrome, and elevated Lp(a) is the major contributor to increased CAD risk.

Long-term therapeutic efficacy of lipoprotein apheresis on circulating oxidative stress parameters--A comparison of two different apheresis techniques.

BACKGROUND: A chronic lipoprotein apheresis therapy leads to an expressed reduction in the incidence of cardiovascular events in high-risk patients. In addition to the elimination of atherogenic lipoproteins such as LDL and lipoprotein(a), an antioxidative effect of lipoprotein apheresis has been suspected. OBJECTIVES AND METHODS: We investigated long-term biochemical effects in sixteen patients undergoing lipoprotein apheresis - lipid filtration (LF, n = 7) or dextran sulfate adsorption (DSA, n = 9). Systemic oxidative stress markers (blood phagocyte chemiluminescence, levels of oxidized LDL and antioxLDL antibodies) were examined at the 1st, 40th and 80th apheresis sessions. RESULTS: In DSA patients, the 80th apheresis session was associated with significantly higher LDL cholesterol removal and lower HDL cholesterol deprivation as compared to LF patients. In contrast to LF patients, DSA patients showed a long-term progressive decrease in circulating oxidant generating activity as evaluated by whole blood chemiluminescence (p < 0.05). Moreover, a single LF apheresis session was associated with higher systemic generation of reactive oxygen species over time. CONCLUSION: Compared to LF, long-term DSA apheresis is associated with a gradual reduction of circulating oxidative burden and may be considered a beneficial molecular mechanism of this technique.

Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales.

BACKGROUND/OBJECTIVE: Familial Hypercholesterolaemia (FH) is caused by mutations in genes of the Low Density Lipoprotein (LDL) receptor pathway. A definitive diagnosis of FH can be made by the demonstration of a pathogenic mutation. The Wales FH service has developed scoring criteria to guide selection of patients for DNA testing, for those referred to clinics with hypercholesterolaemia. The criteria are based on a modification of the Dutch Lipid Clinic scoring criteria and utilise a combination of lipid values, physical signs, personal and family history of premature cardiovascular disease. They are intended to provide clinical guidance and enable resources to be targeted in a cost effective manner. METHODS: 623 patients who presented to lipid clinics across Wales had DNA testing following application of these criteria. RESULTS: The proportion of patients with a pathogenic mutation ranged from 4% in those scoring 5 or less up to 85% in those scoring 15 or more. LDL-cholesterol was the strongest discriminatory factor. Scores gained from physical signs, family history, coronary heart disease, and triglycerides also showed a gradient in mutation pick-up rate according to the score. CONCLUSION: These criteria provide a useful tool to guide selection of patients for DNA testing when applied by health professionals who have clinical experience of FH.

Determinants of VLDL composition and apo B-containing particles in familial combined hyperlipidemia.

BACKGROUND: In familial combined hyperlipidemia (FCHL) the severity of the dyslipidemia is determined by an overproduction of VLDL (very low density lipoprotein) particles and by its abnormal lipid composition. However, few are known regarding the metabolic factors that determine these abnormalities. We investigated the impact of metabolic factors on the number of atherogenic particles (apolipoprotein B level (apoB)) and the triglyceride content of very low-density lipoproteins (VLDLs-TG). METHODS: A cross-sectional study done in FCHL subjects and gender and age-matched healthy subjects. A clinical assessment, lipid profile and plasma concentrations of insulin, apolipoprotein CIII (apo CIII), apolipoprotein AII (apo AII), high sensitive C-reactive protein (HS-CRP), adiponectin and leptin were documented in 147 FCHL patients and 147 age-matched healthy subjects. Multivariate regression models were performed to investigate the independent determinants of VLDL-TG and apo B levels adjusting for confounding factors. RESULTS: The variables that determined the VLDL-triglyceride content as a surrogate of VLDL composition were apo CIII (ß=0.365, p<0.001), insulin (ß=0.281, p<0.001), Apo AII (ß=0.145, p<0.035), and adiponectin levels (ß=-0.255, p<0.001). This model explained 34% of VLDL composition (VLDL-TG) variability. However, none of these variables were independent contributors of apo B-containing particles. CONCLUSIONS: In patients with FCHL apo CIII, apo AII and adiponectin are major novel factors determining the VLDL particle composition. However, such factors do not explain apo B-containing particles.

Hiperlipidemia familiar combinada: documento de consenso / Familial combined hyperlipidemia: Consensus document

La hiperlipidemia familiar combinada (HFC) es un trastorno muy frecuente asociado a enfermedad coronaria prematura. Se transmite de forma autosómica dominante, aunque no existe un gen único asociado al trastorno. El diagnóstico se realiza mediante criterios clínicos, y son importantes la variabilidad del fenotipo lipídico y la historia familiar de hiperlipidemia. Es frecuente la asociación con diabetes mellitus tipo 2, hipertensión arterial y obesidad central. Los pacientes con HFC se consideran de riesgo cardiovascular alto y el objetivo terapéutico es un colesterol-LDL < 100 mg/dl, y < 70 mg/dl en presencia de enfermedad cardiovascular establecida o diabetes mellitus. Los pacientes con HFC requieren tratamiento con estatinas potentes y, a veces, tratamiento combinado. La identificación y el manejo de otros factores de riesgo cardiovascular, como la diabetes y la hipertensión, son fundamentales para reducir la carga de enfermedad cardiovascular. Este documento proporciona recomendaciones para el diagnóstico y el tratamiento integral de los pacientes con HFC especialmente dirigidas a médicos de atención primaria

Familial combined hyperlipidemia (FCH) is a frequent disorder associated with premature coronary artery disease. It is transmitted in an autosomal dominant manner, although there is not a unique gene involved. The diagnosis is performed using clinical criteria, and variability in lipid phenotype and family history of hyperlipidemia are necessaries. Frequently, the disorder is associated with type 2 diabetes mellitus, arterial hypertension and central obesity. Patients with FCH are considered as high cardiovascular risk and the lipid target is an LDL-cholesterol < 100 mg/dL, and < 70 mg/dL if cardiovascular disease or type 2 diabetes are present. Patients with FCH require lipid lowering treatment using potent statins and sometimes, combined lipid-lowering treatment. Identification and management of other cardiovascular risk factors as type 2 diabetes and hypertension are fundamental to reduce cardiovascular disease burden. This document gives recommendations for the diagnosis and global treatment of patients with FCH directed to specialists and general practitioners

[Familial combined hyperlipidemia: consensus document]. / Hiperlipidemia familiar combinada: documento de consenso.

Familial combined hyperlipidemia (FCH) is a frequent disorder associated with premature coronary artery disease. It is transmitted in an autosomal dominant manner, although there is not a unique gene involved. The diagnosis is performed using clinical criteria, and variability in lipid phenotype and family history of hyperlipidemia are necessaries. Frequently, the disorder is associated with type2 diabetes mellitus, arterial hypertension and central obesity. Patients with FCH are considered as high cardiovascular risk and the lipid target is an LDL-cholesterol <100mg/dL, and <70mg/dL if cardiovascular disease or type 2 diabetes are present. Patients with FCH require lipid lowering treatment using potent statins and sometimes, combined lipid-lowering treatment. Identification and management of other cardiovascular risk factors as type 2 diabetes and hypertension are fundamental to reduce cardiovascular disease burden. This document gives recommendations for the diagnosis and global treatment of patients with FCH directed to specialists and general practitioners.

[Familial combined hyperlipidemia: consensus document]. / Hiperlipidemia familiar combinada: documento de consenso.

Familial combined hyperlipidemia (FCH) is a frequent disorder associated with premature coronary artery disease. It is transmitted in an autosomal dominant manner, although there is not a unique gene involved. The diagnosis is performed using clinical criteria, and variability in lipid phenotype and family history of hyperlipidemia are necessaries. Frequently, the disorder is associated with type2 diabetes mellitus, arterial hypertension and central obesity. Patients with FCH are considered as high cardiovascular risk and the lipid target is an LDL-cholesterol <100mg/dL, and <70mg/dL if cardiovascular disease or type 2 diabetes are present. Patients with FCH require lipid lowering treatment using potent statins and sometimes, combined lipid-lowering treatment. Identification and management of other cardiovascular risk factors as type 2 diabetes and hypertension are fundamental to reduce cardiovascular disease burden. This document gives recommendations for the diagnosis and global treatment of patients with FCH directed to specialists and general practitioners.

[Dyslipidemia - when are lipid lowering medications useful in clinical practice?]. / Dyslipidämie - Wann ist der Einsatz von Lipidsenkern in der Praxis sinnvoll?

Dyslipidemia is one of the main modifiable cardiovascular risk factors. There is strong evidence for the efficacy of lipid-lowering drugs in secondary prevention, as well as in primary prevention for patients at high cardiovascular risk. In primary prevention, indication for lipid-lowering interventions should be based on an individual assessment of the cardiovascular risk and on the LDL cholesterol level, despite less strong evidence for the efficacy of drug-based interventions in low risk patients. Treatment consists of statins, as well as lifestyle modifications such as body weight control and increased physical exercise. The latter constitute the primary intervention in patients at low cardiovascular risk. Secondary dyslipidemias due to an underlying medical condition and familial dyslipidemias such as Familial Hypercholesterolemia and Familial Combined Hyperlipidemia should be identified and treated accordingly, taking into account that the risk scoring systems are not appropriate in these situations.

La dyslipidémie est un facteur de risque cardiovasculaire majeur et influençable. L'efficacité des statines est bien établie dans la prévention secondaire des maladies cardiovasculaires et dans la prévention primaire chez les patients à haut risque. En prévention primaire, l'indication pour les hypolipémiants se base sur l'estimation de risque cardiovasculaire et le taux de LDL-cholestérol, bien que les preuves du bénéfice d'un traitement médicamenteux soient plus faibles pour les patients à faible risque. Le traitement repose essentiellement sur les statines, ainsi que les modifications du style de vie, comme la stabilisation ou une réduction du poids et une augmentation de l'activité physique. Les mesures de style de vie constituent l'intervention principale chez les patients à faible risque. Il est important d'identifier les dyslipidémies secondaires à une maladie chronique et les dyslipidémies familiales, comme l'hypercholestérolémie familiale et l'hyperlipidémie familiale combinée, vu que les scores de risque ne sont pas appropriés dans ces situations et leur prise en charge spécifique.

Meta-analysis of safety of the coadministration of statin with fenofibrate in patients with combined hyperlipidemia.

Addition of fenofibrate to statin therapy might represent a viable treatment option for patients whose high risk for coronary heart disease is not controlled by a statin alone. However, safety of coadministration of statin with fenofibrate has been a great concern. The present study tested the safety of coadministration of statin with fenofibrate. We systematically searched the literature to identify randomized controlled trials examining safety of coadministration of statin with fenofibrate. A meta-analysis was performed to estimate safety of coadministration of statin with fenofibrate using fixed-effects models. There were 1,628 subjects in the identified 6 studies. Discontinuation attributed to any adverse events (4.5% vs 3.1%, p = 0.20), any adverse events (42% vs 41%, p = 0.82), adverse events related to study drug (10.9% vs 11.0%, p = 0.95), and serious adverse events (2.0% vs 1.5%, p = 0.71) were not significantly different in the 2 arms. Incidence of alanine aminotransferase and/or aspartate aminotransferase ≥3 times upper limit of normal in the combination therapy arm was significantly higher than in the statin monotherapy arm (3.1% vs 0.2%, p = 0.0009). In the 6 trials with 1,628 subjects no case of myopathy or rhabdomyolysis was reported. In conclusion, statin-fenofibrate combination therapy was tolerated as well as statin monotherapy. Physicians should consider statin-fenofibrate combination therapy to treat patients with mixed dyslipidemia.

Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia.

OBJECTIVE: Rare mutations in the APOE gene, undetectable with the usual genotyping technique, are responsible for dominant familial dysbetalipoproteinemia (FD) and therefore could be easily misclassified as familial combined hyperlipidemia (FCHL). We aimed to identify APOE mutations associated with dominant combined hyperlipoproteinemia and to establish their frequency in subjects with a clinical diagnosis of FCHL. METHODS AND RESULTS: In 279 unrelated subjects with FCHL in whom a functional LDLR mutation was excluded, sequencing of the entire APOE gene detected 9 carriers of a rare mutation: 5 subjects (1.8%) with the R136S mutation (arginine at residue 136 changed to serine) and 4 subjects (1.4%) with the p.Leu149del mutation, a 3-bp inframe deletion that results in the loss of leucine at position 149. Both genetic defects were detected with similar frequency (2.5% and 1.3%, respectively) in an independent group of 160 FCHL subjects from other locations in Spain. Family studies demonstrated cosegregation of these APOE mutations with hyperlipoproteinemia. R136S carriers showed dysbetalipoproteinemia, while the lipid phenotype of p.Leu149del carriers was IIa or IIb. CONCLUSIONS: Rare APOE mutations are responsible for approximately 3.5% of FCHL cases in our population. APOE R136S and p.Leu149del induce autosomal dominant FD and a phenotype indistinguishable from FCHL, respectively.

[Dyslipidemia: news in diagnosis and drug therapy]. / Dislipidemie: attualita' in diagnosi e terapia farmacologica.

Plasma lipid levels are to a large extent determined by genetic factors. In its more extreme forms this is manifested as familial hyperlipidemias, which are an important cause of premature coronary heart disease. It has been demonstrated that rigorous treatment of familial forms reduces the burden of ischemic heart disease. Statins are among the most studied drugs in cardiovascular prevention; a number of large-scale clinical trials have demonstrated that statins substantially reduce cardiovascular morbidity and mortality in both primary and secondary prevention. The currently available evidence suggests that the clinical benefit is largely independent of the type of statin, but depends on the extent of LDL-C lowering. When the most potent statins are insufficient, LDL-C apheresis should be used.

Tratamiento de las dislipemias en situaciones especiales / Treatment of dyslipidemia in specific clinical contexts

Se podría definir la comorbilidad como el conjunto de enfermedades de un determinado paciente no relacionadas con el diagnóstico principal que tienen implicaciones trascendentes en la mortalidad, los resultados clínicos, la proporción de complicaciones, la clase funcional, las estancias hospitalarias y la intensidad del tratamiento. La comorbilidad es habitual en los pacientes dislipémicos y, como en otros, ocasiona modificaciones en la atención que reciben. En este sentido, es deseable que el cardiólogo conozca las indicaciones de tratamiento y los objetivos en las diferentes situaciones clínicas en que un paciente dislipémico puede presentarse, no solo en función de su riesgo total, sino de otras condiciones como la diabetes mellitus y el síndrome metabólico o la enfermedad renal crónica, o en situaciones concretas comunes como el síndrome coronario agudo, la insuficiencia cardiaca, el trasplante, las enfermedades autoinmunitarias o las infecciosas como el virus de la inmunodeficiencia humana. Es también importante conocer los aspectos más relevantes de las dislipemias familiares más comunes, por el elevado riesgo cardiovascular que comportan y por las evidencias que señalan que el diagnóstico y el tratamiento precoz cambian muy significativamente el pronóstico (AU)

Comorbidity can be defined as the occurrence in a particular patient of a number of diseases that are not related to the principal diagnosis and which have substantial implications for the risk of death, clinical outcomes, the development of complications, functional class, the period of hospitalization and treatment intensity. Comorbidity is frequently present in patients with dyslipidemia and, as with other patients, it leads to alterations in the care received. It is important that the cardiologist is aware of both the indications for treatment and treatment objectives in the different clinical contexts in which dyslipidemic patients can present, not only with respect to the patient’s overall risk but also with regard to the presence of other conditions, such as diabetes, metabolic syndrome or chronic kidney disease, and in commonly encountered specific clinical situations involving, for example, acute coronary syndrome, heart failure, transplantation, autoimmune disease or infectious disease, such as human immunodeficiency virus infection. It is also important to have an understanding of the principle characteristics of the more common forms of familial hyperlipidemia because they are associated with a high cardiovascular risk and because the evidence indicates that early diagnosis and treatment can have a substantial effect on prognosis (AU)

Xantomas eruptivos: manifestación cutánea de desórdenes de las lipoproteínas / Eruptive xanthomas: skin manifestation of the lipoprotein disorders

Los xantomas constituyen tumores cutáneos, y se presentan por depósitos de lipoproteínas en los macrófagos tisulares. Clínicamente se manifiestan como lesiones papulosas o nodulares de color amarillento, estando relacionada su distribución con las diferentes formas clínicas de presentación. Aunque no se observan con frecuencia, su presencia puede alertar sobre la existencia de alteraciones en los niveles lipídicos en sangre, y es por lo que se presentó este caso, donde la presencia de los xantomas fue indicador de un incremento de los niveles de colesterol y triglicéridos, lo que pudo constituir un importante factor de riesgo para que la paciente presentara alteraciones en otros sistemas...

Xanthomas are skin tumors, and they present as a cause of lipoprotein deposits in tissue macrophages. Clinically they take the form of yellow papular or nodular lesions, being related its distribution with their different forms of presentation. Though they are not very frequent, their presence can alert about the existence of alterations in the lipid levels in blood. That is why we presented this case, where the presence of xanthomas was an indicator of the cholesterol and triglycerides level increase, what probably was an important risk fact for the patient to present alterations in other systems...