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Post a Comment Lipoprotein (a) as a marker of hereditary lipid metabolism disorders in patients with early manifestation of coronary artery disease
- Authors: Rogozhinа A.A.1,2, Ivanova O.N.3, Minushkinа L.O.2, Brazhnik V.A.1,2, Zubova E.A.1,2, Ivanovа L.A.4, Zateyshchikov D.A.1,2,5
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Affiliations:
- City Clinical Hospital No. 29, Moscow
- Central State Medical Academy of Department of Presidential Affairs
- Research Centre for Medical Genetics
- City Clinical Hospital No. 51, Moscow
- Federal Scientific and Clinical Center for Specialized Medical Assistance and Medical Technologies
- Issue: Vol 14, No 2 (2023)
- Pages: 36-43
- Section: Original Study Articles
- URL: https://journals.rcsi.science/clinpractice/article/view/142790
- DOI: https://doi.org/10.17816/clinpract133628
- ID: 142790
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Abstract
Background: The clinical phenotype of familial hypercholesterolemia (FH) combined with the “classical” genetic defects of this disease increase the risk of coronary artery disease (CAD) in the case of a high level of lipoprotein (a) (Lp(a)).
Aim: To assess the association of hereditary disorders of lipid metabolism with a high level of Lp(a) in the case of an early manifestation of CAD in the absence of the FH phenotype.
Methods: We studied 81 patients with premature CAD (at the age up to 55 years in men and up to 60 years in women). Lp(a) was measured in the blood serum by the immunoturbidimetric method. We performed the molecular genetic testing, using massively parallel sequencing, which included the following panel of genes: ABCA1, ABCG1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA2, APOA4, APOA5, APOB, APOC1, APOC2, APOC3, APOE, APOH, CETP, CH25H, CIDEC, CREB3L3, GPD1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LIPE, LIPG, LMF1, LPA, LPL, MTTP, MYLIP, NPC1, NPC1L1, NPC2, PCSK9, PLTP, PPP1R17, SAR1B, SCARB1, STAP1.
Results: 24 (29.6%) patients had Lp(a) ≥ 30 mg/dl and were more likely to have a family history of CAD (70.8% vs 42.1%, p=0.05). In patients with a confirmed FH phenotype, there were no pathogenic variants associated with hereditary disorders of lipid metabolism. 4 patients with Lp(a) ≥30 mg/dl without a confirmed FH phenotype appeared to be carriers of pathogenic variants in the genes of lipid metabolism (LDLR p.Glu763Asp, ABCA1 p.Arg1128His, APOA5 p.His321Le), as well as of a not previously registered variant in the LIPE gene NM_005357.4:c. 2312T>C.
Conclusions: Lp(a) can be an appropriate marker for revealing pathogenic variants in the genes of the lipid metabolism system in patients without the clinical FH phenotype with an early CAD manifestation.
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##article.viewOnOriginalSite##About the authors
Anastasiа A. Rogozhinа
City Clinical Hospital No. 29, Moscow; Central State Medical Academy of Department of Presidential Affairs
Author for correspondence.
Email: rogozhina007@list.ru
ORCID iD: 0000-0002-9742-359X
Russian Federation, Moscow; Moscow
Olga N. Ivanova
Research Centre for Medical Genetics
Email: Ion10@bk.ru
ORCID iD: 0000-0002-8366-2004
SPIN-code: 1174-3367
MD, PhD
Russian Federation, MoscowLarisа O. Minushkinа
Central State Medical Academy of Department of Presidential Affairs
Email: minushkina@mail.ru
ORCID iD: 0000-0002-4203-3586
SPIN-code: 3654-8920
Dr. Sci. (Med.), Professor
Russian Federation, MoscowVictotia A. Brazhnik
City Clinical Hospital No. 29, Moscow; Central State Medical Academy of Department of Presidential Affairs
Email: vabrahznik@bk.ru
ORCID iD: 0000-0003-4144-4719
SPIN-code: 5627-9617
Dr. Sci. (Med.), Associate Professor
Russian Federation, Moscow; MoscowEkaterina A. Zubova
City Clinical Hospital No. 29, Moscow; Central State Medical Academy of Department of Presidential Affairs
Email: zubova.katerinka@inbox.ru
ORCID iD: 0000-0001-8377-1350
SPIN-code: 8907-4161
MD, PhD
Russian Federation, Moscow; MoscowLudmila A. Ivanovа
City Clinical Hospital No. 51, Moscow
Email: kdl-51@yandex.ru
ORCID iD: 0009-0001-5229-4085
Russian Federation, Moscow
Dmitry A. Zateyshchikov
City Clinical Hospital No. 29, Moscow; Central State Medical Academy of Department of Presidential Affairs; Federal Scientific and Clinical Center for Specialized Medical Assistance and Medical Technologies
Email: dz@bk.ru
ORCID iD: 0000-0001-7065-2045
SPIN-code: 1694-3031
Dr. Sci. (Med.), Professor
Moscow; Moscow; MoscowReferences
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