Fig. 2

Pattern analysis of the dataset from the serum metabolome and lipidome profiling. a Treemap overview for the metabolic category distribution of annotated metabolites based on untargeted metabolomic/lipidomic analyses. b PCA score plot of the metabolic profiling data from serum samples of HoFH patients, HeFH patients, and non-FH individuals in the discovery and validation cohorts; each point represents an individual serum sample. c Chord diagram of the major differentiated metabolic classes across the HoFH, HeFH, and non-FH groups from the discovery and validation cohorts; the width of the curves indicates the mean percentage of each metabolic class between the study groups. Each color represents a unique metabolite class. d Heatmap of the differentiated metabolites that distinguished HoFH patients from HeFH and non-FH individuals in discovery cohort. HoFH homozygous familial hypercholesterolemia, HeFH heterozygous familial hypercholesterolemia, non-FH non-familial hypercholesterolemia, FA fatty acids, CE cholesterol esters, Cer ceramide, CAR acyl carnitines, LPA lysophosphatidic acid, LPI lysophosphatidylinositol, PC diacylglycerophosphocholines, LPC lyso PC, LPC-O alkyl-LPC, LPE lysophosphoethanolamines, LPE-O alkyl-LPE