prikaz prve stranice dokumenta Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS score”
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Scientific paper - Review paper
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 More authors...

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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, pp. 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, pp. 265-272. doi: 10.1016/j.atherosclerosis.2018.06.814

Moulin P, Dufour R, Averna M, Arca M, Cefalù AB, Noto D, and sur.. Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS score”. Atherosclerosis [Internet]. 2018 August [cited 2024 November 07];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, pp. 265-272, August 2018. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:809254. [Accessed: 07 November 2024]

Metadata
Title (english)Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS score”
AuthorPhilippe Moulin
AuthorRobert Dufour
AuthorMaurizio Averna
AuthorMarcello Arca
AuthorAngelo B. Cefalù
AuthorDavide Noto
AuthorLaura D'Erasmo
AuthorAlessia Di Costanzo
AuthorChristophe Marçais
AuthorLuis Antonio Alvarez-Sala Walther
AuthorMaciej Banach
AuthorJan Borén
AuthorRobert Cramb
AuthorIoanna Gouni-Berthold
AuthorElizabeth Hughes
AuthorColin Johnson
AuthorXavier Pintó
AuthorŽeljko Reiner
AuthorJeanine Roeters van Lennep
AuthorHandrean Soran
AuthorClaudia Stefanutti
AuthorErik Stroes
AuthorEric Bruckert
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
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.
Languageenglish
Publication typeScientific paper - Review paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleAtherosclerosis
Numberingvol. 275, pp. 265-272
p-ISSN0021-9150
DOIhttps://doi.org/10.1016/j.atherosclerosis.2018.06.814
URN:NBNurn:nbn:hr:105:809254
Publication2018-08
Document URLhttps://doi.org/10.1016/j.atherosclerosis.2018.06.814
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-28 10:08:16