Search results for "lipoprotein-lipase gene"

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Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".

2018

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 Eu…

[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 hypertriglyceridaemiabusinessBiomarkersAtherosclerosis
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