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Role of lipoprotein...
Role of lipoprotein lipase activity measurement in the diagnosis of familial chylomicronemia syndrome : diagnosis of the Familial Chylomicronemia Syndrome
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- Rioja, José (författare)
- Lipids and Atherosclerosis Laboratory, Department of Medicine and Dermatology, Centro de Investigaciones Médico Sanitarias (CIMES), Instituto de Investigación Biomédica de Málaga (IBIMA), University of Málaga, Málaga, Spain
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- Ariza, María José (författare)
- Lipids and Atherosclerosis Laboratory, Department of Medicine and Dermatology, Centro de Investigaciones Médico Sanitarias (CIMES), Instituto de Investigación Biomédica de Málaga (IBIMA), University of Málaga, Málaga, Spain
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- Benítez-Toledo, María José (författare)
- Lipid Unit, University Hospital Virgen de la Victoria, Málaga, Spain
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- Espíldora-Hernández, Javier (författare)
- Lipid Unit, University Hospital Virgen de la Victoria, Málaga, Spain
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- Coca-Prieto, Inmaculada (författare)
- Lipid Unit, University Hospital Virgen de la Victoria, Málaga, Spain
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- Arrobas-Velilla, Teresa (författare)
- Clinical Chemistry Unit, Virgen Macarena Hospital, Sevilla, Spain
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- Camacho, Ana (författare)
- Unidad de Riesgo Vascular. Hospital Infanta Elena, Huelva, Spain
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- Olivecrona, Gunilla (författare)
- Umeå universitet,Fysiologisk kemi
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- Sánchez-Chaparro, Miguel Ángel (författare)
- Lipids and Atherosclerosis Laboratory, Department of Medicine and Dermatology, Centro de Investigaciones Médico Sanitarias (CIMES), Instituto de Investigación Biomédica de Málaga (IBIMA), University of Málaga, Málaga, Spain; Lipid Unit, University Hospital Virgen de la Victoria, Málaga, Spain
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- Valdivielso, Pedro (författare)
- Lipids and Atherosclerosis Laboratory, Department of Medicine and Dermatology, Centro de Investigaciones Médico Sanitarias (CIMES), Instituto de Investigación Biomédica de Málaga (IBIMA), University of Málaga, Málaga, Spain; Lipid Unit, University Hospital Virgen de la Victoria, Málaga, Spain
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(creator_code:org_t)
- Elsevier, 2023
- 2023
- Engelska.
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Ingår i: Journal of Clinical Lipidology. - : Elsevier. - 1933-2874 .- 1876-4789. ; 17:2, s. 272-280
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Background: Activity assays for lipoprotein lipase (LPL) are not standardised for use in clinical settings. Objective: This study sought to define and validate a cut-off points based on a ROC curve for the diagnosis of patients with familial chylomicronemia syndrome (FCS). We also evaluated the role of LPL activity in a comprehensive FCS diagnostic workflow.Methods: A derivation cohort (including an FCS group (n = 9), a multifactorial chylomicronemia syndrome (MCS) group (n = 11)), and an external validation cohort (including an FCS group (n = 5), a MCS group (n = 23) and a normo-triglyceridemic (NTG) group (n = 14)), were studied. FCS patients were previously diagnosed by the presence of biallelic pathogenic genetic variants in the LPL and GPIHBP1 genes. LPL activity was also measured. Clinical and anthropometric data were recorded, and serum lipids and lipoproteins were measured. Sensitivity, specificity and cut-offs for LPL activity were obtained from a ROC curve and externally validated.Results: All post-heparin plasma LPL activity in the FCS patients were below 25.1 mU/mL, that was cut-off with best performance. There was no overlap in the LPL activity distributions between the FCS and MCS groups, conversely to the FCS and NTG groups.Conclusion: We conclude that, in addition to genetic testing, LPL activity in subjects with severe hypertriglyceridemia is a reliable criterium in the diagnosis of FCS when using a cut-off of 25.1 mU/mL (25% of the mean LPL activity in the validation MCS group). We do not recommend the NTG patient based cut-off values due to low sensitivity.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
Nyckelord
- Diagnosis
- Hyperchylomicronemia
- Hypertriglyceridemia
- Lipase
- Lipoprotein
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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