Genetics in familial hypercholesterolaemia – from genetic research to new guidelines

Authors

DOI:

https://doi.org/10.20883/jms.245

Keywords:

familial hypercholesterolaemia, PCSK9 inhibitors, evolocumab, alirocumab, dyslipidaemias

Abstract

Familial Hypercholesterolaemia (FH) is genetic disorder touching up to 1 to 250 people, increasing the risk of atherosclerotic cardiovascular disease risk and early death by 3–13 times. The majority of mutations are autosomal dominant among 3 genes related to cholesterole metabolism: LDL‑receptor (LDLR), apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin type 9 (PCSK9). It comprises 60% of reported cases, which still is not at satisfactory level. This article summarizes new research in the field of FH and points out new therapeutic methods — PCSK9 inhibitors as advised in new European Society of Cardiology guidelines od dyslipidaemias.

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Author Biography

  • Edyta Kinga Prokop, I Clinic of Cardiology, Poznan University of Medical Sciences, Poland

    Younger assistent at I Clinic of Cardiology

References

Haralambos K, Whatley SD, Edwards R, et al. Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales. Atherosclerosis. 2015;240(1):190–196. doi: http://dx.doi.org/10.1016/j.atherosclerosis.2015.03.003.

Futema M, Shah S, Cooper JA, et al. Refinement of Variant Selection for the LDL Cholesterol Genetic Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial Hypercholesterolemia and Replication in Samples from 6 Countries. Clin Chem. 2015;61(1):231–238, doi: 10.1373/clinchem.2014.231365.

Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic Causes of Monogenic Heterozygous Familial Hypercholesterolemia: A HuGE Prevalence Review. Am J Epidemiol. 2004;160(5):407–420, doi: 10.1093/aje/kwh236.

Umans‑Eckenhausen MAW, Defesche JC, Sijbrands EJG, et al. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. The Lancet. 2001;357(9251):165–168, doi: http://dx.doi.org/10.1016/S0140–6736(00)03587-X.

Al‑Allaf FA, Athar M, Abduljaleel Z, et al. Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease. Gene. 2015 July;565(1):76–84.

Maglio C, Mancina RM, Motta BM, et al. Genetic diagnosis of familial hypercholesterolaemia by targeted next‑generation sequencing. J Intern Med. 2014;276:396–403.

Bourbon M, Alves AC, Alonso R, Nelva Mata, et al. Mutational analysis and genotype‑phenotype relation in familial hypercholesterolemia: The SAFEHEART registry. Atherosclerosis. 2017 July;262: 8–13, doi: https://doi.org/10.1016/j.atherosclerosis.2017.04.002.

Catapano AL, Graham I, De Backer G, et al. 2016 ESC/EAS Guidelines for the Management of Dyslipidaemias. Eur Heart J. 2016;37(39):2999–3058, doi: 10.1093/eurheartj/ehw272.

Ito MK, Santos RD. PCSK9 Inhibition With Monoclonal Antibodies: Modern Management of Hypercholesterolemia. The Journal of Clinical Pharmacology. 2017;57:7–32. doi:10.1002/jcph.766.

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Published

2019-04-03

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How to Cite

1.
Prokop EK, Jagodziński PP, Grajek S. Genetics in familial hypercholesterolaemia – from genetic research to new guidelines. JMS [Internet]. 2019 Apr. 3 [cited 2024 Nov. 13];88(3):192-4. Available from: https://jms.ump.edu.pl/index.php/JMS/article/view/245
Received 2017-07-16
Accepted 2019-04-01
Published 2019-04-03