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Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS score”
Atherosclerosis, 275 (2018); 265-272. https://doi.org/10.1016/j.atherosclerosis.2018.06.814
Moulin, Philippe; Dufour, Robert; Averna, Maurizio; Arca, Marcello; Cefalù, Angelo B.; Noto, Davide; D'Erasmo, Laura; Di Costanzo, Alessia; Marçais, Christophe; Alvarez-Sala Walther, Luis Antonio; Banach, Maciej; Borén, Jan; Cramb, Robert; Gouni-Berthold, Ioanna; Hughes, Elizabeth; Johnson, Colin; Pintó, Xavier; Reiner, Željko; van Lennep, Jeanine Roeters; Soran, Handrean; Stefanutti, Claudia; Stroes, Erik; Bruckert, Eric Više autora...

Institucijski repozitorij: Dr Med - digitalni repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

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Moulin, P., Dufour, R., Averna, M., Arca, M., Cefalù, A. B., Noto, D. ... Bruckert, E. (2018). Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS score”. Atherosclerosis, 275., 265-272. doi: 10.1016/j.atherosclerosis.2018.06.814

Moulin, Philippe, et al. "Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS score”." Atherosclerosis, vol. 275, 2018, str. 265-272. https://doi.org/10.1016/j.atherosclerosis.2018.06.814

Moulin, Philippe, Robert Dufour, Maurizio Averna, Marcello Arca, Angelo B. Cefalù, Davide Noto, Laura D'Erasmo, et al. "Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS score”." Atherosclerosis 275 (2018): 265-272. https://doi.org/10.1016/j.atherosclerosis.2018.06.814

Moulin, P., et al. (2018) 'Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS score”', Atherosclerosis, 275, str. 265-272. doi: 10.1016/j.atherosclerosis.2018.06.814

Moulin P, Dufour R, Averna M, Arca M, Cefalù AB, Noto D, i sur.. Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS score”. Atherosclerosis [Internet]. 08.2018. [pristupljeno 07.11.2024.];275:265-272. doi: 10.1016/j.atherosclerosis.2018.06.814

P. Moulin, et al., "Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS score”", Atherosclerosis, vol. 275, str. 265-272, Kolovoz 2018. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:809254. [Citirano: 07.11.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:105:809254
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Naslov (engleski)Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS score”
AutorPhilippe Moulin
AutorRobert Dufour
AutorMaurizio Averna
AutorMarcello Arca
AutorAngelo B. Cefalù
AutorDavide Noto
AutorLaura D'Erasmo
AutorAlessia Di Costanzo
AutorChristophe Marçais
AutorLuis Antonio Alvarez-Sala Walther
AutorMaciej Banach
AutorJan Borén
AutorRobert Cramb
AutorIoanna Gouni-Berthold
AutorElizabeth Hughes
AutorColin Johnson
AutorXavier Pintó
AutorŽeljko Reiner
AutorJeanine Roeters van Lennep
AutorHandrean Soran
AutorClaudia Stefanutti
AutorErik Stroes
AutorEric Bruckert
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
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 >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 (≥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.
Jezikengleski
Vrsta publikacijeZnanstveni rad - Pregledni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaAtherosclerosis
Brojčani podacivol. 275, str. 265-272
p-ISSN0021-9150
DOIhttps://doi.org/10.1016/j.atherosclerosis.2018.06.814
URN:NBNurn:nbn:hr:105:809254
Datum objave publikacije2018-08
URL dokumentahttps://doi.org/10.1016/j.atherosclerosis.2018.06.814
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
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Datum i vrijeme pohrane2024-03-28 10:08:16