Universität zu Köln

Moulin, Philippe, Dufour, Robert, Averna, Maurizio ORCID: 0000-0003-3558-9209, Arca, Marcello, Cefalu, Angelo B., Noto, Davide, D'Erasmo, Laura ORCID: 0000-0002-9174-4667, Di Costanzo, Alessia, Marcais, Christophe, Alvarez-Sala Walther, Luis Antonio, Banach, Maciej ORCID: 0000-0001-6690-6874, Boren, Jan, Cramb, Robert, Gouni-Berthold, Ioanna, Hughes, Elizabeth, Johnson, Colin, Pinto, Xavier, Reiner, Zeljko, van Lennep, Jeanine Roeters, Soran, Handrean, Stefanutti, Claudia ORCID: 0000-0003-3448-2426, Stroes, Erik and Bruckert, Eric (2018). Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an FCS score. Atherosclerosis, 275. S. 265 - 273. CLARE: ELSEVIER IRELAND LTD. ISSN 1879-1484

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Abstract

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. (c) 2018 The Authors. Published by Elsevier B.V.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Moulin, Philippe UNSPECIFIED UNSPECIFIED UNSPECIFIED Dufour, Robert UNSPECIFIED UNSPECIFIED UNSPECIFIED Averna, Maurizio UNSPECIFIED orcid.org/0000-0003-3558-9209 UNSPECIFIED Arca, Marcello UNSPECIFIED UNSPECIFIED UNSPECIFIED Cefalu, Angelo B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Noto, Davide UNSPECIFIED UNSPECIFIED UNSPECIFIED D'Erasmo, Laura UNSPECIFIED orcid.org/0000-0002-9174-4667 UNSPECIFIED Di Costanzo, Alessia UNSPECIFIED UNSPECIFIED UNSPECIFIED Marcais, Christophe UNSPECIFIED UNSPECIFIED UNSPECIFIED Alvarez-Sala Walther, Luis Antonio UNSPECIFIED UNSPECIFIED UNSPECIFIED Banach, Maciej UNSPECIFIED orcid.org/0000-0001-6690-6874 UNSPECIFIED Boren, Jan UNSPECIFIED UNSPECIFIED UNSPECIFIED Cramb, Robert UNSPECIFIED UNSPECIFIED UNSPECIFIED Gouni-Berthold, Ioanna UNSPECIFIED UNSPECIFIED UNSPECIFIED Hughes, Elizabeth UNSPECIFIED UNSPECIFIED UNSPECIFIED Johnson, Colin UNSPECIFIED UNSPECIFIED UNSPECIFIED Pinto, Xavier UNSPECIFIED UNSPECIFIED UNSPECIFIED Reiner, Zeljko UNSPECIFIED UNSPECIFIED UNSPECIFIED van Lennep, Jeanine Roeters UNSPECIFIED UNSPECIFIED UNSPECIFIED Soran, Handrean UNSPECIFIED UNSPECIFIED UNSPECIFIED Stefanutti, Claudia UNSPECIFIED orcid.org/0000-0003-3448-2426 UNSPECIFIED Stroes, Erik UNSPECIFIED UNSPECIFIED UNSPECIFIED Bruckert, Eric UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-177097
DOI:	10.1016/j.atherosclerosis.2018.06.814
Journal or Publication Title:	Atherosclerosis
Volume:	275
Page Range:	S. 265 - 273
Date:	2018
Publisher:	ELSEVIER IRELAND LTD
Place of Publication:	CLARE
ISSN:	1879-1484
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language LIPOPROTEIN-LIPASE GENE; SEVERE HYPERTRIGLYCERIDEMIA; MUTATIONS; BURDEN; PLASMA; PANCREATITIS; APOA5; POPULATION; EXPRESSION; ETIOLOGY Multiple languages Cardiac & Cardiovascular Systems; Peripheral Vascular Disease Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/17709