Clinical and genetic characteristics of familial hypercholesterolemia patients with type 2 diabetes

Sun, Di; Cao, Ye‐Xuan; You, Xiang-Dong; Zhou, Biao; Li, S.; Guo, Yuan‐Lin; Zhang, Y.; Wu, Na‐Qiong; Zhu, Cheng‐Gang; Gao, Ying; Liu, G.; Dong, Qian; Li, J.-J.

doi:10.1007/s40618-018-0959-0

Cited by 15 publications

(11 citation statements)

References 31 publications

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“…Likewise, the presence of metabolic disorders such as insulin resistance in obesity and diabetes has shown to further increase the risk of ASCVD in FH. The prevalence of obesity has been reported at around 20% in several FH cohorts, whereas a more variable estimation of type 2 diabetes has been shown across the world, ranging from 1.75% to 25% (12,(19)(20)(21)(22). Patients with FH have been found in a number of studies to exhibit lower prevalence of diabetes compared with their unaffected siblings (23).…”

Section: Clinical Presentation and Diagnosismentioning

confidence: 99%

Lipoprotein metabolism in familial hypercholesterolemia

Chemello

García-Nafría

Gallo

et al. 2021

Journal of Lipid Research

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Familial hypercholesterolemia (FH) is one of the most common genetic disorders in humans. It is an extremely atherogenic metabolic disorder characterized by lifelong elevations of circulating LDL-C levels often leading to premature cardiovascular events. In this review, we discuss the clinical phenotypes of heterozygous and homozygous FH, the genetic variants in four genes ( LDLR/APOB/PCSK9/LDLRAP1 ) underpinning the FH phenotype as well as the most recent in vitro experimental approaches used to investigate molecular defects affecting the LDL receptor pathway. In addition, we review perturbations in the metabolism of lipoproteins other than LDL in FH, with a major focus on lipoprotein (a). Finally, we discuss the mode of action and efficacy of many of the currently approved hypocholesterolemic agents used to treat patients with FH, with a special emphasis on the treatment of phenotypically more severe forms of FH.

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Section: Clinical Presentation and Diagnosismentioning

confidence: 99%

Lipoprotein metabolism in familial hypercholesterolemia

Chemello

García-Nafría

Gallo

et al. 2021

Journal of Lipid Research

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“…Patients with DM were older, had a higher prevalence of hypertension, and had a higher body mass index than patients without DM. As expected, they also had a lipid profile more characteristic of diabetic dyslipidemia, including higher triglyceride and lower HDL-c and apoA-1 concentrations [ 68 , 74 , 146 ], as well as higher concentrations of markers of subclinical systemic inflammation, such as C-reactive protein and neutrophil count [ 68 ], typical of individuals with insulin resistance.…”

Section: Coexistence Of Diabetes and Familial Hypercholesterolemia: C...mentioning

confidence: 81%

“…However, another recently published Spanish study, performed on the island of Gran Canaria, showed an unexpectedly high prevalence of DM in HeFH LDLR mutation carriers (25%) [ 66 ]. Other studies show a high prevalence of DM too, above 20%, but in patients with only clinical diagnosis of FH without genetic confirmation [ 67 , 68 ].…”

Section: Familial Hypercholesterolemia and Glucose Metabolism: Risk O...mentioning

confidence: 99%

“…As mentioned above and depicted in Figure 1 , it is reasonable to think that subjects with FH who develop DM may have alterations in lipid metabolism resulting from the additive effect of both diseases. A few studies have compared the clinical characteristics and lipid profiles of HeFH subjects with and without T2DM [ 68 , 74 , 146 ]. Patients with DM were older, had a higher prevalence of hypertension, and had a higher body mass index than patients without DM.…”

Section: Coexistence Of Diabetes and Familial Hypercholesterolemia: C...mentioning

confidence: 99%

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Diabetes and Familial Hypercholesterolemia: Interplay between Lipid and Glucose Metabolism

et al. 2022

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Familial hypercholesterolemia (FH) is a genetic disease characterized by high low-density lipoprotein (LDL) cholesterol (LDL-c) concentrations that increase cardiovascular risk and cause premature death. The most frequent cause of the disease is a mutation in the LDL receptor (LDLR) gene. Diabetes is also associated with an increased risk of cardiovascular disease and mortality. People with FH seem to be protected from developing diabetes, whereas cholesterol-lowering treatments such as statins are associated with an increased risk of the disease. One of the hypotheses to explain this is based on the toxicity of LDL particles on insulin-secreting pancreatic β-cells, and their uptake by the latter, mediated by the LDLR. A healthy lifestyle and a relatively low body mass index in people with FH have also been proposed as explanations. Its association with superimposed diabetes modifies the phenotype of FH, both regarding the lipid profile and cardiovascular risk. However, findings regarding the association and interplay between these two diseases are conflicting. The present review summarizes the existing evidence and discusses knowledge gaps on the matter.

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“…Its predominant vasoconstriction effect is appeared through the activation of its endothelin A (ETA) and Endothelin B (ETB) receptors through the body organs and vessels [2]. Usually, T2DM is accompanied by hypertriglyceridemia [3], hypercholesterolemia [4], hyperuricemia [5], and hyperhomocysteinemia [6] and hypertension. These effects change the tone and stability of vasculatures, causing a mechanical stress on veins and arteries that are already under oxidative stress load in T2DM [7].…”

Section: Introductionmentioning

confidence: 99%

Association of Serum Urotensin-II Levels with Insulin Resistance and Endothelin-I in Type-II Diabetes Mellitus Patients

Khidhir

Mahmud

Maulood

2021

eijs

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Urotensin-II (UII), a pluripotent vasoactive cyclic peptide, exhibits the progression of cardiovascular diseases and the glucose metabolic disorder of insulin resistance. Type 2 Diabetes Mellitus (T2DM) is entirely associated with insulin resistance. This study aimed to demonstrate the association of UII with insulin resistance in diabetic and non-diabetic subjects. A total of 73 male and female subjects aged 40-60 years were recruited in this case-control study. They included 35 non- diabetic subjects with a body mass index of (BMI) ≤ 25 and 38 patients with Diabetes Mellitus and BMI ≥ 25. UII levels were assessed beside other vasoactive and clinical parameters. The results revealed that patients with T2DM had elevated UII and Endothelin-I (ET-I) levels, along with positive correlations with the insulin-resistance marker of Homeostatic Model Assessment for Insulin Resistance (HOMA-IR), blood pressure (BP), fasting blood glucose (FBG), hemoglobin A1c (HbA1C), and asymmetric dimethylarginine (ADMA). Results from stepwise multiple regressions indicated that UII correlated positively with the increases in the levels of serum cholesterol, ET-I, urea, ADMA, and FBG. This study concludes that the increase in UII level has a positive relation with insulin-resistance and the increase in ET-I level. However, UII could inhibit glucose-induced insulin secretion and, hence, can be utilized as a marker for T2DM and its complications through inflammatory microangiopathy.

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Clinical and genetic characteristics of familial hypercholesterolemia patients with type 2 diabetes

Cited by 15 publications

References 31 publications

Lipoprotein metabolism in familial hypercholesterolemia

Lipoprotein metabolism in familial hypercholesterolemia

Diabetes and Familial Hypercholesterolemia: Interplay between Lipid and Glucose Metabolism

Association of Serum Urotensin-II Levels with Insulin Resistance and Endothelin-I in Type-II Diabetes Mellitus Patients

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