Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement

Hegele, Robert A.; Borén, Jan; Ginsberg, Henry N.; Arca, Marcello; Averna, Maurizio; Binder, Christoph J.; Calabresi, Laura; Chapman, M. John; Cuchel, Marina; Eckardstein, Arnold von; Frikke‐Schmidt, Ruth; Gaudet, Daniel; Hovingh, G. Kees; Kronenberg, Florian; Lütjohann, Dieter; Parhofer, Klaus G.; Raal, Frederick J.; Ray, Kausik K.; Remaley, Alan T.; Stock, Jane; Stroes, Erik S.G.; Tokgözoğlu, Lâle; Catapano, Alberico L.

doi:10.1016/s2213-8587(19)30264-5

Cited by 125 publications

(112 citation statements)

References 104 publications

(183 reference statements)

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“…The widely used term familial chylomicronemia syndrome is synonymous with monogenic chylomicronemia [5].The absence of secondary factors, and HTG diagnosis at young adulthood are suggestive of monogenic chylomicronemia,particularly if hypertriglyceridemia is severe and associated with pancreatitis [3].…”

Section: Discussionmentioning

confidence: 99%

“…In non-pregnant individuals, higher doses of omega-3 fatty acids which contain EPA and DHA (4 g/day total EPA+DHA) have been shown to reduce ongoing metabolic control, concentration of VLDL and possible chylomicron secretion [2,3]. Omega-3 fatty acids are the cornerstone of safe therapy for mother and child in long-term [6,7].…”

Section: Discussionmentioning

confidence: 99%

“…Although metabolic control is ongoing, TG concentrations may rapidly rebound at any time [3]. The risk of pancreatitis is always present and more effective therapies are required [13].…”

Section: Discussionmentioning

confidence: 99%

“…HTG has been de ned as fasting TG concentrations ≥150 mg/dL [2]. Severe HTG is de ned as TG concentration >885mg/dL, which is almost accompanied by the pathological presence of chylomicrons; this affects 0.1-0.2% of the population [3]. Chylomicronemia manifested by eruptive xanthomas, lipemia retinalis, hepatosplenomegaly, and episodes of pancreatitis called as chylomicronemia syndrome [1].…”

Section: Introductionmentioning

confidence: 99%

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Management of a Patient With Chylomicronemia Syndrome During Pregnancy With Medical Nutrition Therapy: a Case Report

Zahedi

Asghari

Mirmiran

et al. 2020

Preprint

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Background: Hypertriglyceridemia (HTG) during pregnancy may be accompanied by acute pancreatitis, hyperviscosity syndrome, and preeclampsia. HTG during pregnancy should be managed by a multidisciplinary team, however, no clinical guidelines exist for severe gestational HTG.Case presentation: We herein present a case of 36-year-old G1P0Ab0, with a history of severe HTG-induced necrotizing pancreatitis 9 years ago. There was no family history of HTG. During these years, she did not follow any appropriate diet or medical therapy for HTG. She became pregnant in May 2019, without preconception counseling. Eruptive and tuberoeruptive xanthomas appeared in 27th week of pregnancy. Serum triglycerides (TGs) and fasting blood sugar (FBS) were 6620 and 124 mg/dL, respectively. Showing HTG and gestational diabetes (GDM). After admission for management of severe HTG; she was put on parenteral nutrition with dextrose water 5% and infusion insulin therapy without receiving any enteral carbohydrate for two days. Following that, very low fat diet and omega-3 fatty acids (1200 mg/day) were stated. After 4 weeks, TG levels reached 1000 mg/dL and her self-monitoring blood glucose levels showed appropriate blood glucose for pregnancy. She underwent a successful elective cesarean section in 39th of pregnancy.Conclusion: This case report demonstrates that HTG during pregnancy could be well managed by medical nutrition therapy (MNT).

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Although metabolic control is ongoing, TG concentrations may rapidly rebound at any time [3]. The risk of pancreatitis is always present and more effective therapies are required [13].…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Management of a Patient With Chylomicronemia Syndrome During Pregnancy With Medical Nutrition Therapy: a Case Report

Zahedi

Asghari

Mirmiran

et al. 2020

Preprint

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“…It is evident that accessible clinical guidance is much needed in this area. This new consensus statement from the European Atherosclerosis Society (EAS) provides important scientific background, and a pragmatic practical guide to definitive diagnosis and treatment [3].…”

Section: Rare Dyslipidaemias: Why New Focus Is Neededmentioning

confidence: 99%

Commentary on rare dyslipidaemia paper

Stock

2020

Atherosclerosis

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Associations of Alzheimer Disease–Protective APOE Variants With Age-Related Macular Degeneration

et al. 2023

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ImportanceThe association of major lipid genes with and their potential as drug targets for age-related macular degeneration (AMD) is unknown. These associations are important to study because AMD is the leading cause of irreversible late-onset blindness in high-income countries.ObjectiveTo determine whether the full range of structural genetic variation in apolipoprotein E (APOE), a master gene in peripheral and cerebral lipid metabolism, is associated with risk of AMD.Design, Setting, and ParticipantsThis cohort study used data from the Copenhagen City Heart Study (CCHS) and the Copenhagen General Population Study (CGPS) cohorts. Participants were followed from study inclusion at the time of blood sampling to occurrence of event, death, emigration, or December 7, 2018, whichever came first. For participants in CCHS, the APOE gene was sequenced, and 9 variants with a heterozygote frequency of at least 0.0002 were genotyped in the CGPS. Observers were masked to patient groupings. Data were analyzed from March to September 2021.ExposuresThe exposure was APOE status, and the direct gene product in plasma, apoE levels, was measured in all participants.Main Outcomes and MeasuresCox regression was applied to estimate risk of AMD associated with APOE genotype.ResultsA total of 105 546 participants (mean [SD] age, 57.7 [13.4] years; 58 140 [55%] female participants) were included. Compared with participants with the common ɛ33 genotype, risk of AMD was lower in participants with ε44 (multifactorially adjusted hazard ratio [aHR], 0.66; 95% CI, 0.45-0.96) and ε43 (aHR, 0.80; 95% CI, 0.71-0.90) genotypes and higher in the ε32 (aHR, 1.15; 95% CI, 1.00-1.31) genotype. Compared with noncarriers, risk of AMD was higher for participants with Gly145Asp (aHR, 3.53; 95% CI, 1.14-10.96) and Arg154Cys (aHR, 4.52; 95% CI, 1-13-18.13) heterozygotes. Results were similar after further adjustment for lipid traits and after adjustment for the APOE ε2/ε3/ε4 variant. Combining all common and rare structural variants in a weighted allele score, risk of AMD per 1-mg/dL genetically higher plasma apoE was increased in the adjusted model (aHR, 1.12; 95% CI, 1.05-1.19), the adjusted model plus APOE ɛ2/ɛ3/ɛ4 status (aHR, 1.82; 95% CI, 1.20-2.76), and the adjusted model in individuals with the ε33 genotype only (aHR, 1.77; 95% CI, 1.14-2.75).Conclusions and RelevanceThese findings highlight that structural variation in APOE beyond the ε2/ε3/ε4 variants may be important for risk of AMD in a population of European ancestry. Rare functional ɛ2-like variants in APOE have previously been reported to have protective associations for Alzheimer disease but the present findings suggest a simultaneous high risk of AMD. This would limit the drug target potential of mechanisms resembling these variants.

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Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement

Cited by 125 publications

References 104 publications

Management of a Patient With Chylomicronemia Syndrome During Pregnancy With Medical Nutrition Therapy: a Case Report

Management of a Patient With Chylomicronemia Syndrome During Pregnancy With Medical Nutrition Therapy: a Case Report

Commentary on rare dyslipidaemia paper

Associations of Alzheimer Disease–Protective APOE Variants With Age-Related Macular Degeneration

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