Familial Combined Hyperlipidemia: Controversial Aspects of its Diagnosis and Pathogenesis

Aguilar-Salinas, Carlos; Zamora, Margarita; Gómez-Díaz, Rita A.; Mehta, Roopa; Pérez, Francisco Javier Gómez; Rull, Juan

doi:10.1055/s-2004-835379

Cited by 17 publications

(6 citation statements)

References 37 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…-Familial combined hyperlipidemia: FCHL is a common condition characterized by the presence of different lipid phenotypes within the affected kindred; cases should have an increased apo B concentration [15]. It is frequently associated with the metabolic syndrome.…”

Section: Genetic Forms Of Hypertriglyceridemia: Focus In Hispanicsmentioning

confidence: 99%

Genetic and environmental determinants of the susceptibility of Amerindian derived populations for having hypertriglyceridemia

Aguilar-Salinas

Tusié-Luna

Pajukanta³

2014

Metabolism

View full text Add to dashboard Cite

Here, we discuss potential explanations for the higher prevalence of hypertriglyceridemia in populations with an Amerindian background. Although environmental factors are the triggers, the search for the ethnic related factors that explains the increased susceptibility of the Amerindians is a promising area for research. The study of the genetics of hypertriglyceridemia in Hispanic populations faces several challenges. Ethnicity could be a major confounding variable to prove genetic associations. Despite that, the study of hypertriglyceridemia in Hispanics has resulted in significant contributions. Two GWAS reports have exclusively included Mexican mestizos. Fifty percent of the associations reported in Caucasians could be generalized to the Mexicans, but in many cases the Mexican lead SNP was different than that reported in Europeans. Both reports included new associations with apo B or triglycerides concentrations. The frequency of susceptibility alleles in Mexicans is higher than that found in Europeans for several of the genes with the greatest effect on triglycerides levels. An example is the SNP rs964184 in APOA5. The same trend was observed for ANGPTL3 and TIMD4 variants. In summary, we postulate that the study of the genetic determinants of hypertriglyceridemia in Amerindian populations which have major changes in their lifestyle, may prove to be a great resource to identify new genes and pathways associated with hypertriglyceridemia.

show abstract

Section: Genetic Forms Of Hypertriglyceridemia: Focus In Hispanicsmentioning

confidence: 99%

Genetic and environmental determinants of the susceptibility of Amerindian derived populations for having hypertriglyceridemia

Aguilar-Salinas

Tusié-Luna

Pajukanta³

2014

Metabolism

View full text Add to dashboard Cite

show abstract

“…Other Clinical signs include Familial combined hyperlipidemia (also called the atherogenic phenotype B) with a constellation of moderately elevated triglyceride (> 150 mg/dL), borderline or moderately decreased HDL-C. It may also manifest as normal or moderately elevated LDL, increased remnants composed of IDL, and small dense LDL[ 37 ] and increased apolipoprotein B[ 38 ]. Previously, this was thought to be a familial trait.…”

Section: Pathogenesis Of Lipodystrophymentioning

confidence: 99%

“…More recently, it has become apparent that it can also be acquired and expressed as a result of obesity and insulin resistance. This phenotype has been shown to be linked to increases in heart disease[ 38 ]. The lipid profile in this lipidemia is very similar to that in the lipodystrophy syndrome.…”

Section: Pathogenesis Of Lipodystrophymentioning

confidence: 99%

“…The lipid profile in this lipidemia is very similar to that in the lipodystrophy syndrome. Although the exact mechanism leading to the atherogenic phenotype is unknown, it is known that insulin is an important regulator of fatty acid and lipid metabolism[ 39 ] and that the atherogenic phenotype is largely due to a net over production of VLDL by the liver causing increases in all beta-lipoproteins[ 38 ].…”

Section: Pathogenesis Of Lipodystrophymentioning

confidence: 99%

See 1 more Smart Citation

Biochemical Manifestation of HIV Lipodystrophy Syndrome

Ihenetu

Mason

2012

Int. J. MCH AIDS

View full text Add to dashboard Cite

ObjectivesHighly active anti-retroviral therapy (HAART), including protease inhibitors (PI) have led to dramatic improvements in the quality and quantity of life in patients with acquired immunodeficiency syndrome (AIDS). However, a significant number of AIDS patients on HAART develop characteristic changes in body fat redistribution referred to as lipodystrophy syndrome (LDS). Features of LDS include hypertrophy in the neck fat pad (buffalo hump), increased fat in the abdominal region (protease paunch), gynecomastia and loss of fat in the mid-face and extremities.MethodsThe aim of this paper is to review the current knowledge regarding this syndrome. This article reviews the published investigations on biochemical manifestation of HIV lipodystrophy syndrome.ResultsIt is estimated that approximately 64% of patients treated with PI will experience this syndrome. Biochemically, these patients have increased triglycerides (Trig), total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-C) and extremely low high-density lipoprotein-cholesterol (HDL-C).Conclusions and Public Health ImplicationsIt is hoped that awareness of this syndrome would aid in early diagnosis and better patient management, possibly leading to a lower incidence of cardiovascular complications among these patients.

show abstract

“…Familial combined hyperlipidemia (FCH) is the most common genetic form of dyslipidemia [ 9 ]. It is associated with a 1.7- to 10-fold increased risk for CVD [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

Factors associated with postprandial lipemia and apolipoprotein A-V levels in individuals with familial combined hyperlipidemia

et al. 2014

Self Cite

View full text Add to dashboard Cite

BackgroundAlterations in postprandial metabolism have been described in familial combined hyperlipidemia (FCH); however, their underlying mechanisms are not well characterized. We aimed to identify factors related to the magnitude of postprandial lipemia and apolipoprotein (apo) A-V levels in subjects with FCH.MethodsFCH cases (n = 99) were studied using a standardized meal test. Abdominal obesity was assessed using the waist to hip ratio (WHR). A linear regression model was performed to investigate the variables associated with the triglycerides incremental area under the curve (iAUC). Independent associations between metabolic variables and apo A-V iAUC were also investigated in a randomly selected subgroup (n = 44). The study sample was classified according to the presence of fasting hypertriglyceridemia (≥150 mg/dL) and abdominal obesity (WHR ≥0.92 in men and ≥0.85 in women) to explore differences in parameters.ResultsThe fasting apo B-48 levels (r = 0.404), and the WHR (r = 0.359) were independent factors contributing to the triglycerides iAUC (r2 = 0.29, P < 0.001). The triglycerides iAUC was independently associated with the apo A-V iAUC (r2 = 0.54, P < 0.01). Patients with both hypertriglyceridemia and abdominal obesity showed the most robust triglycerides and apo A-V postprandial responses.ConclusionsIn patients with FCH the fasting apo B-48 level is the main factor associated with postprandial lipemia. Abdominal obesity also contributes to the magnitude of the postprandial response.The triglycerides postprandial increment is the principal factor associated with the apo A-V postprandial response.

show abstract

Familial Combined Hyperlipidemia: Controversial Aspects of its Diagnosis and Pathogenesis

Cited by 17 publications

References 37 publications

Genetic and environmental determinants of the susceptibility of Amerindian derived populations for having hypertriglyceridemia

Genetic and environmental determinants of the susceptibility of Amerindian derived populations for having hypertriglyceridemia

Biochemical Manifestation of HIV Lipodystrophy Syndrome

Factors associated with postprandial lipemia and apolipoprotein A-V levels in individuals with familial combined hyperlipidemia

Contact Info

Product

Resources

About