Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an “FCS score”

Moulin, Philippe and Dufour, Robert and Averna, Maurizio and Arca, Marcello and Cefalù, Angelo B. and Noto, Davide and D'Erasmo, Laura and Di Costanzo, Alessia and Marçais, Christophe and Alvarez-Sala Walther, Luis Antonio and Banach, Maciej and Borén, Jan and Cramb, Robert and Gouni-Berthold, Ioanna and Hughes, Elizabeth and Johnson, Colin and Pintó, Xavier and Reiner, Željko and van Lennep, Jeanine Roeters and Soran, Handrean and Stefanutti, Claudia and 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. pp. 265-272. ISSN 0021-9150

[img] PDF
Download (548kB)

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.

Item Type: Article
Additional Information: © 2018 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Departments: Katedra za internu medicinu
Depositing User: Kristina Berketa
Status: Published
Creators:
CreatorsEmail
Moulin, PhilippeUNSPECIFIED
Dufour, RobertUNSPECIFIED
Averna, MaurizioUNSPECIFIED
Arca, MarcelloUNSPECIFIED
Cefalù, Angelo B.UNSPECIFIED
Noto, DavideUNSPECIFIED
D'Erasmo, LauraUNSPECIFIED
Di Costanzo, AlessiaUNSPECIFIED
Marçais, ChristopheUNSPECIFIED
Alvarez-Sala Walther, Luis AntonioUNSPECIFIED
Banach, MaciejUNSPECIFIED
Borén, JanUNSPECIFIED
Cramb, RobertUNSPECIFIED
Gouni-Berthold, IoannaUNSPECIFIED
Hughes, ElizabethUNSPECIFIED
Johnson, ColinUNSPECIFIED
Pintó, XavierUNSPECIFIED
Reiner, ŽeljkoUNSPECIFIED
van Lennep, Jeanine RoetersUNSPECIFIED
Soran, HandreanUNSPECIFIED
Stefanutti, ClaudiaUNSPECIFIED
Stroes, ErikUNSPECIFIED
Bruckert, EricUNSPECIFIED
Date: August 2018
Date Deposited: 18 Sep 2019 08:06
Last Modified: 18 Sep 2019 08:06
Subjects: /
Related URLs:
URI: http://medlib.mef.hr/id/eprint/3356

Actions (login required)

View Item View Item

Downloads

Downloads per month over past year