Abstract
Data presented in this article are supplementary material to our article entitled “Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS Score” (Moulin et al., 2018, in press). The data describe the genotypes of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS), from the validation and replication cohorts.
Highlights
The familial chylomicronaemia syndrome (FCS) cohort included 25 patients with FCS from the Montreal lipid clinic and four patients from the Lyon lipid clinic (Table 1)
The items of the FCS score were selected on a pragmatic basis following discussion within a panel of experts
FCS patients were defined as any patient carrier of a homozygous or a compound heterozygous loss of function mutation in lipoprotein lipase (LPL), apolipoprotein C2 (APOC2), apolipoprotein A5 (APOA5), glycosylphosphatidylinositolanchored high-density lipoprotein-binding protein 1 (GPIHBP1) and lipase maturation factor 1 (LMF1) genes or a low post-heparin LPL activity
Summary
Characterisation of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS): Establishment of an FCS clinical diagnostic score. Data presented in this article are supplementary material to our article entitled “Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS Score” (Moulin et al, 2018, in press). The data describe the genotypes of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS), from the validation and replication cohorts.
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