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Bringing Human Serum Lipidomics to the Forefront of Clinical Practice: Two Clinical Diagnosis Success Stories

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Clinical Metabolomics Applications in Genetic Diseases

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Abstract

The present chapter describes two clinical applications based on LC-MS and NMR lipidomics that have already been introduced into clinical workflows to better stratify metabolic health, including staging nonalcoholic fatty liver disease according to a specific lipid signature for the disease progression and improving the cardiovascular disease risk based on advanced lipoprotein profiling.

The chapter includes a list of potential applications based on the same technologies and details the envisaged risks and limitations.

The implications of developing advanced high-throughput technologies for clinical applications go much further, such as accelerating the deployment of lipidomic-based assessments in the healthcare system, favoring true disruption through precise and personalized medicine based on global bio-screening approaches.

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Abbreviations

ALT:

Alanine transaminase

ApoA/B:

Apolipoprotein A/B

AST:

Aspartate transaminase

AUC/ AUROC:

Area under the ROC curve

BMI:

Body mass index

CIBERDEM:

Centro de Investigación Biomédicas en Red de Diabetes y Enfermedades Metabólicas

CLIA:

Clinical Laboratory Improvement Amendments

CMD:

Cardiometabolic disease

CMR:

Cardiometabolic risk

EAS:

European Atherosclerosis Society

ESC:

European Society of Cardiology

FFA:

Free fatty acids

HCC:

Hepatocellular carcinoma

HDL:

High-density lipoproteins

IDL:

Intermediate-density lipoproteins

IISPV:

Institut d’Investigació Sanitària Pere Virgili

IMT:

Intima-media thickness

IRAS:

Insulin resistance atherosclerosis

IVD:

In vitro diagnostic

LC:

Liquid chromatography-mass

LDL:

Low-density lipoproteins

LITMUS:

Liver Investigation: Testing Marker Utility in Steatohepatitis

LMWM:

Low-molecular-weight metabolites

MAFLD:

Metabolic-associated fatty liver disease

MESA:

Multi-Ethnic Study of Atherosclerosis

ML:

Machine learning

MUFAs:

Monounsaturated fatty acids

NASH:

Nonalcoholic steatohepatitis

NIMBLE:

Noninvasive biomarkers of metabolic liver disease

NPV:

Negative predictive value

PPV:

Positive predictive value

RUO :

Research use only

VLDL:

Very-low-density lipoproteins

WHO:

World Health Organization

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Authors and Affiliations

  1. Biosfer Teslab, Reus, Spain

    Núria Amigó Grau & Pablo Ortiz Betes

  2. Department of Basic Medical Sciences, Institut d’Investigació Sanitària Pere Virgili (IISPV), Av. Universitat, Reus, Spain

    Núria Amigó Grau

  3. Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Instituto de Salud Carlos III (ISCIII), Madrid, Spain

    Núria Amigó Grau

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  1. Núria Amigó Grau
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  2. Pablo Ortiz Betes
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Correspondence to Núria Amigó Grau .

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Editors and Affiliations

  1. Metabolomics Section, Department of Clinical Genomics, Center for Genome Medicine, King Faisal Specialist Hospital & Research Center (KFSHRC), Riyadh, Saudi Arabia

    Anas M. Abdel Rahman

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Amigó Grau, N., Ortiz Betes, P. (2023). Bringing Human Serum Lipidomics to the Forefront of Clinical Practice: Two Clinical Diagnosis Success Stories. In: Abdel Rahman, A.M. (eds) Clinical Metabolomics Applications in Genetic Diseases. Springer, Singapore. https://doi.org/10.1007/978-981-99-5162-8_12

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