Importance of the triglyceride level in identifying patients with a Type III Hyperlipoproteinemia phenotype using the ApoB algorithm

Varghese, Bibin; Park, Jihwan; Chew, Erin; Sajja, Aparna; Brownstein, Adam J.; Pallazola, Vincent A.; Sathiyakumar, Vasanth; Jones, Steven R.; Sniderman, Allan D.; Martin, Seth S.

doi:10.1016/j.jacl.2020.09.011

Cited by 7 publications

(4 citation statements)

References 25 publications

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“…Therefore, these subjects suspected for DBL should be referred to a specialized lipid clinic for further investigations, including the APOE gene sequencing. Unfortunately, genetic data were not available in this study [16 ▪▪ ].…”

Section: The Apolipoprotein B Algorithmsmentioning

confidence: 99%

“…However, the optimal TG cutoff to use in the apoB algorithm to define hyper-TG was not precisely determined. Recently, a large study using 128 485 lipid profiles (from UTC) from the Very Large Database of Lipids (VLDbL) [16 ▪▪ ] compared the diagnostic accuracy of the apoB algorithm using four different TG cutoffs (133 mg/dl (1.5 mmol/l), 175 mg/dl (1.98 mmol/l), 200 mg/dl (2.26 mmol/l), and 250 mg/dl (2.82 mmol/l)) compared to the Fredrickson criteria. They concluded that the value of 133 mg/dl (1.5 mmol/l) was associated with the best performance in the detection of DBL, with a sensitivity of 29.5%, a specificity of 98.5% and a C -statistic of 0.64.…”

Section: The Apolipoprotein B Algorithmsmentioning

confidence: 99%

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Diagnosis of remnant hyperlipidaemia

Paquette

Bernard

Baass

2022

Current Opinion in Lipidology

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Purpose of reviewIn recent years, there has been interest for the development of simplified diagnosis algorithms of dysbetalipoproteinemia (DBL) in order to avoid the complex testing associated with the Fredrickson criteria (reference method). The purpose of this review is to present recent advances in the field of DBL with a focus on screening and diagnosis.Recent findingsRecently, two different multi-step algorithms for the diagnosis of DBL have been published and their performance has been compared to the Fredrickson criteria. Furthermore, a recent large study demonstrated that only a minority (38%) of DBL patients are carriers of the E2/E2 genotype and that these individuals presented a more severe phenotype.SummaryThe current literature supports the fact that the DBL phenotype is more heterogeneous and complex than previously thought. Indeed, DBL patients can present with either mild or more severe phenotypes that can be distinguished as multifactorial remnant cholesterol disease and genetic apolipoprotein B deficiency. Measurement of apolipoprotein B as well as APOE gene testing are both essential elements in the diagnosis of DBL.

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Section: The Apolipoprotein B Algorithmsmentioning

confidence: 99%

Section: The Apolipoprotein B Algorithmsmentioning

confidence: 99%

Diagnosis of remnant hyperlipidaemia

Paquette

Bernard

Baass

2022

Current Opinion in Lipidology

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“…This finding is consistent with the Varghese 2021 study, which showed that the TG cutoff ≥ 1.5 mmol/L was optimal for identifying individuals with FD. Increasing the TG cutoff in the apoB algorithm may result in missing subjects with a less pronounced phenotype of FD [26].…”

Section: Applicability Of Biochemical Fd Criteria For Identifying Sub...mentioning

confidence: 99%

Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study

Blokhina,

Ershova,

Kiseleva

et al. 2023

IJMS

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Familial dysbetalipoproteinemia (FD) is a highly atherogenic genetically based lipid disorder with an underestimated actual prevalence. In recent years, several biochemical algorithms have been developed to diagnose FD using available laboratory tests. The practical applicability of FD diagnostic criteria and the prevalence of FD in Russia have not been previously assessed. We demonstrated that the diagnostic algorithms of FD, including the diagnostic apoB levels, require correction, taking into account the distribution of apoB levels in the population. At the same time, a triglycerides cutoff ≥ 1.5 mmol/L may be a useful tool in identifying subjects with FD. In this study, a high prevalence of FD was detected: 0.67% (one in 150) based on the ε2ε2 haplotype and triglycerides levels ≥ 1.5 mmol/L. We also analyzed the presence and pathogenicity of APOE variants associated with autosomal dominant FD in a large research sample.

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“…While TGs are usually measured in plasma or serum, they can be used in the diagnosis of chylothorax either by a significant discrepancy of lipids and apoB from plasma levels or by TG >1 mmol/L with cholesterol <5 mmol/L 38. Combinations of lipids and apoB levels are used in the diagnosis of familial chylomicronaemia syndrome (FCS) (ie, TG >10 mmol/L; TG/cholesterol ratio >2.2 (in mmoL/L) and apoB <1 g/L) and to identify patients likely to have apoE variants 39–41. Automated analysers also detect CM particles through the lipaemia index42 and ideally all specimens with a high lipaemic index should have TG measured.…”

Section: Triglyceride-related Laboratory Techniquesmentioning

confidence: 99%

Hypertriglyceridaemia: an update

et al. 2022

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Triglycerides (TGs) form part of the standard lipid profile. Elevations in TGs are associated with increased cardiovascular disease risk through triglyceride-rich lipoprotein particles found as part of non-HDL cholesterol. Many elevations of TGs are secondary to other causes, but primary hypertriglyceridaemia syndromes need to be identified. The genetic causes of hypertriglyceridaemia range from familial combined hyperlipidaemia through the autosomal recessive remnant hyperlipidaemia (related to apolipoprotein E variants) and familial chylomicronaemia syndromes. Patients with primary hypertriglyceridaemia >10 mmol/L require characterisation and specific intervention. Simple lipid profiles do not provide adequate information for detailed diagnosis and additional assays such as apolipoprotein (apo)B100, apoE genotype and next-generation sequencing may be useful. Management of raised TGs includes optimising diet, reducing exacerbating factors as well as lipid-lowering medications such as statins, fibrates, niacin and omega-3 fatty acids. Novel medications for orphan disease indications such as familial chylomicronaemia syndrome include volanesorsen, evinacumab and other antisense therapeutics. Extreme hypertriglyceridaemia syndromes, especially chylomicronaemia syndromes, which can be exposed by pregnancy or other factors are a medical emergency and require admission and specialist management sometimes including plasma exchange.

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Importance of the triglyceride level in identifying patients with a Type III Hyperlipoproteinemia phenotype using the ApoB algorithm

Cited by 7 publications

References 25 publications

Diagnosis of remnant hyperlipidaemia

Diagnosis of remnant hyperlipidaemia

Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study

Hypertriglyceridaemia: an update

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