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RESEARCH PRODUCT
Diagnostic algorithm for familial chylomicronemia syndrome
Philippe MoulinKlaus G. ParhoferMaurizio AvernaVinciane ReboursErik S.g. StroesJ-matthias Löhrsubject
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 LipaseMutationbusinessBiomarkersdescription
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 define a diagnostic algorithm for FCS, a board of European experts was instituted. Such an algorithm for FCS is important to guide practitioners in the diagnosis of suspected FCS and to optimize therapeutic strategies. Results: The multidisciplinary views were merged, leading to a diagnostic algorithm, proposed here. Conclusion: This diagnostic algorithm represents a potentially useful tool to support primary and secondary care practitioners in the recognition of signs and clinical manifestations in individuals potentially affected by FCS. (C) 2016 Elsevier Ireland Ltd.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2016-12-22 |