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RESEARCH PRODUCT
Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".
Handrean SoranMaurizio AvernaDavide NotoElizabeth A. HughesLuis Antonio Alvarez-sala WaltherAngelo B. CefalùŽEljko ReinerAlessia Di CostanzoLaura D'erasmoRobert DufourIoanna Gouni-bertholdErik S.g. StroesJan BorénC. MarcaisPhilippe MoulinMarcello ArcaEric BruckertXavier PintóColin D. JohnsonJeanine E. Roeters Van LennepMaciej BanachRobert CrambClaudia Stefanuttisubject
[SDV]Life Sciences [q-bio]Diagnosis toolpopulation030204 cardiovascular system & hematologyburdenapoa50302 clinical medicineLoss of Function MutationRisk FactorsChylomicrons030212 general & internal medicineAge of OnsetHypolipidemic AgentsBIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Interna medicina.Lipoprotein lipaseplasma triglycerideshyperlipoproteinemiaPrognosis3. Good healthUp-RegulationPhenotypeAcute pancreatitislipids (amino acids peptides and proteins)Hyperlipoproteinemia Type IAcute pancreatitis ; Familial chylomicronaemia syndrome ; Major hypertriglyceridaemia ; Multifactorial chylomicronaemiaCardiology and Cardiovascular MedicineFamilial chylomicronaemia syndromeAlgorithmsacute-pancreatitismedicine.medical_specialtyConsensushypertriglyceridemiaetiologyAcute pancreatitis; Familial chylomicronaemia syndrome; Major hypertriglyceridaemia; Multifactorial chylomicronaemia/Decision Support TechniquesDiagnosis Differential03 medical and health sciencesAcute pancreatitis; Familial chylomicronaemia syndrome; Major hypertriglyceridaemia; Multifactorial chylomicronaemia; Cardiology and Cardiovascular MedicinePredictive Value of TestsInternal medicinemedicineHumansGenetic Predisposition to DiseaseAcute pancreatitiBIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Internal Medicine.GenotypingTriglyceridesPregnancyReceiver operating characteristicbusiness.industrysevereMultifactorial chylomicronaemiaReproducibility of Resultsmutationslipoprotein-lipase genemedicine.diseaseConfidence intervalAcute pancreatitisLipoprotein LipasePancreatitisCardiovascular System & CardiologyPancreatitisMajor hypertriglyceridaemiabusinessBiomarkersdescription
Familial chylomicronaemia syndrome (FCS) is a rare, inherited disorder characterised by impaired clearance of triglyceride (TG)-rich lipoproteins from plasma, leading to severe hypertriglyceridaemia (HTG) and a markedly increased risk of acute pancreatitis. It is due to the lack of lipoprotein lipase (LPL) function, resulting from recessive loss of function mutations in the genes coding LPL or its modulators. A large overlap in the phenotype between FCS and multifactorial chylomicronaemia syndrome (MCS) contributes to the inconsistency in how patients are diagnosed and managed worldwide, whereas the incidence of acute hypertriglyceridaemic pancreatitis is more frequent in FCS. A panel of European experts provided guidance on the diagnostic strategy surrounding FCS and proposed an algorithm-based diagnosis tool for identification of these patients, which can be readily translated into practice. Features included in this FCS score comprise: severe elevation of plasma TGs (fasting TG levels \textgreater 10 mmol/L [885 mg/dL] on multiple occasions), refractory to standard TG-lowering therapies, a young age at onset, the lack of secondary factors (except for pregnancy and oral oestrogens) and a history of episodes of acute pancreatitis. Considering 53 FCS patients from three cohorts and 52 MCS patients from three cohorts, the overall sensitivity of the FCS score (\textgreater= 10) was 88% (95% confidence interval [CI]: 0.76, 0.97) with an overall specificity of 85% (95% CI: 0.75, 0.94). Receiver operating characteristic curve area was 0.91. Pragmatic clinical scoring, by standardising diagnosis, may help differentiate FCS from MCS, may alleviate the need for systematic genotyping in patients with severe HTG and may help identify high-priority candidates for genotyping. (c) 2018 The Authors. Published by Elsevier B.V.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2018-08-01 | Atherosclerosis |