Search results for "ACUTE-PANCREATITIS"

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Diagnostic algorithm for familial chylomicronemia syndrome

2016

International audience; Background: Familial chylomicronemia syndrome (FCS) is a rare genetic disease that leads to severe hypertriglyceridemia often associated with recurrent episodes of pancreatitis. The recognition and correct diagnosis of the disease is challenging due to its rarity, and to the lack of specificity of signs and symptoms. Lipid experts, endocrinologists, gastroenterologists, pancreatologists, and general practitioners may encounter patients who potentially have FCS. Therefore, cooperation between experts and improved knowledge of FCS is essential in improving the diagnosis. Currently, a consensus on best practice for the diagnosis of FCS is lacking. Methods: Aiming to def…

Chylomicrons; Familial chylomicronemia syndrome; Hyperlipoproteinemia; Lipoprotein lipase deficiency; Pancreatitis; Biomarkers; Genetic Markers; Genetic Predisposition to Disease; Humans; Hyperlipoproteinemia Type I; Lipids; Lipoprotein Lipase; Phenotype; Practice Guidelines as Topic; Predictive Value of Tests; Prognosis; Algorithms; Critical Pathways; DNA Mutational Analysis; Decision Support Techniques; Mutation; Internal Medicine; Cardiology and Cardiovascular MedicineSettore MED/09 - Medicina InternaACUTE-PANCREATITIS[SDV]Life Sciences [q-bio]DNA Mutational AnalysisPredictive Value of TestDisease030204 cardiovascular system & hematologyVARIANTSDecision Support Technique0302 clinical medicineDOMAINGenetic MarkerBINDINGChylomicronsHYPERTRIGLYCERIDEMICMedicine030212 general & internal medicinePANCREATITISLipoprotein lipase deficiencyGeneral MedicineFamilial ChylomicronemiaLipidPrognosisLipids3. Good healthAlgorithmDEFICIENCYPhenotypeCritical PathwayPractice Guidelines as TopicCritical PathwaysHyperlipoproteinemia Type Ilipids (amino acids peptides and proteins)Cardiology and Cardiovascular MedicineAlgorithmAlgorithmsHumanGenetic MarkersSevere hypertriglyceridemiaFamilial chylomicronemia syndromePrognosiSigns and symptomsLIPOPROTEIN-LIPASEHyperlipoproteinemiaCLASSIFICATIONDecision Support TechniquesSecondary careChylomicronDNA Mutational Analysi03 medical and health sciencesPredictive Value of TestsInternal MedicineMANAGEMENTHumansGenetic Predisposition to DiseasePancreatitibusiness.industryBiomarkerLipoprotein LipaseMutationbusinessBiomarkers
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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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