Language
English
Publication Date
6-1-2026
Journal
Journal of Clinical Lipidology
DOI
10.1016/j.jacl.2026.03.004
PMID
42034475
Abstract
Background: Chylomicronemia is associated with extreme hypertriglyceridemia and an increased risk of acute pancreatitis and cardiometabolic complications. Rarely, chylomicronemia persists despite control of secondary causes and conventional treatments. The most severe form of persistent chylomicronemia (PC) is familial chylomicronemia syndrome (FCS). Diagnosis scoring systems have been developed to help clinicians differentiate FCS from other causes of chylomicronemia.
Objective: To assess the ability of FCS diagnosis scoring systems to discriminate FCS from other forms of PC.
Methods: This study included 413 Caucasians presenting a history of chylomicronemia, among whom 65 (15.7%) met the criteria of PC. The performance of 3 FCS diagnosis scoring systems (French Canadian, European, and North American) was evaluated.
Results: Among the 65 individuals with PC, 39 carried a biallelic combination of pathogenic variants (biallelic FCS). The 26 others were classified according to whether they presented a score above (clinical FCS) or below (multifactorial PC) the diagnosis threshold of FCS. Using the French Canadian system, 20/26 (76.9%) met FCS diagnosis criteria (clinical FCS) compared with 16/26 (61.5%) with the European system, 7/26 (26.9%) with the North American system at the threshold of 45 (FCS very likely), and 1 (3.8%) at the threshold of 60 (definite FCS). Among the 39 biallelic FCS, some scored below the clinical threshold of FCS.
Conclusion: All diagnosis scoring systems, including the North American system at a threshold of 45, discriminate multifactorial PC from biallelic FCS and fairly identify people presenting characteristics of FCS without having the capacity of distinguishing biallelic FCS from clinical FCS. FCS clinical diagnosis systems might contribute to equitable access to precision medicine for patients affected by PC.
Keywords
Humans, Hyperlipoproteinemia Type I, Female, Male, Adult, Middle Aged, Hyperlipoproteinemia Type II, Diagnosis, Differential, Adolescent, Clinical scoring system, Diagnosis, Persistent chylomicronemia, Sensitivity, Specificity
Published Open-Access
yes
Recommended Citation
Brisson, Diane; Larouche, Miriam; Laflamme, Nathalie; et al., "Comparison of Different “Familial Chylomicronemia Syndrome” Clinical Diagnosis Scoring Systems in Patients With Persistent Chylomicronemia" (2026). Faculty, Staff and Students Publications. 6702.
https://digitalcommons.library.tmc.edu/baylor_docs/6702