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. 2019 Mar;42(3):385-390.
doi: 10.1002/clc.23154. Epub 2019 Feb 19.

Prevalence of familial hypercholesterolemia in patients with premature myocardial infarction

Yuxia Cui  1   2   3 , Sufang Li  1   2   3 , Feng Zhang  1   2   3 , Junxian Song  1   2   3 , Chongyou Lee  1   2   3 , Manyan Wu  1   2   3 , Hong Chen  1   2   3
Affiliations

Prevalence of familial hypercholesterolemia in patients with premature myocardial infarction

Yuxia Cui et al. Clin Cardiol. 2019 Mar.

Abstract

Background: Familial hypercholesterolemia (FH) is a genetic cause of premature myocardial infarction (PMI). Early diagnosis of FH is critical for prognosis.

Hypothesis: To investigate the prevalence of FH among a cohort of Chinese patients with PMI using genetic testing, and to evaluate different diagnostic criteria.

Methods: A total of 225 consecutive PMI patients were recruited. Low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin-kexin type 9 (PCSK9) and low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) genes were detected by Sanger sequencing. FH was diagnosed using the Dutch Lipid Clinic Network (DLCN) criteria and modified DLCN criteria, respectively. The prevalence and clinical features of FH were analyzed.

Results: In all PMI patients, pathogenic mutations of LDLR, APOB, PCSK9 and LDLRAP1 genes were found in 10 of 225 patients. Among all mutations, four mutations (LDLR c.129G>C, LDLR c.1867A>T, LDLRAP1 c.65G>C, and LDLRAP1 c.274G>A) were newly discovered. The prevalence of FH diagnosed by genetic testing was 4.4%. The prevalence of definite/probable FH diagnosed by DLCN and modified DLCN criteria reached 8.0% and 23.6%, respectively, and the mutation rates were 33.3% and 12.2%, respectively. The low-density lipo-protein cholesterol (LDL-C) levels in PMI patients with FH were far from goal attainment. Only one of the FH patients had LDL-C <2.5 mmol/L, and none of them had LDL-C <1.8 mmol/L.

Conclusions: The prevalence of FH among Chinese patients with PMI appeared relatively common. Underdiagnosis and undertreatment of FH are still a big problem, which should arouse a widespread concern.

Keywords: familial hypercholesterolemia; gene mutation; premature myocardial infarction; treatment.

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Conflict of interest statement

The authors declare no potential conflict of interests.

Figures

Figure 1
Figure 1
LDL‐C levels (A) and Gensini scores (B) of patients with different gene mutations. The abscissa for peer review represents different genotypes, and the ordinate represents LDL‐C levels (A) and Gensini scores (B) (n = 10). APOB, apolipoprotein B; LDL‐C, low‐density lipoprotein cholesterol; LDLR, low‐density lipoprotein receptor
See this image and copyright information in PMC

References

    1. Nordestgaard BG, Benn M. Genetic testing for familial hypercholesterolaemia is essential in individuals with high LDL cholesterol: who does it in the world? Eur Heart J. 2017;38:1580‐1583. - PubMed
    1. Lye S‐H, Chahil JK, Bagali P, et al. Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia. PLoS One. 2013;8(4):e60729. - PMC - PubMed
    1. Muntoni S, Pisciotta L, Muntoni S, Bertolini S. Pharmacological treatment of a Sardinian patient affected by autosomal recessive hypercholesterolemia (ARH). J Clin Lipidol. 2015;9(1):103‐106. - PubMed
    1. Alonso R, Dıaz‐Dıaz JL, Arrieta F, et al. Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry. J Clin Lipidol. 2016;10:953‐961. - PubMed
    1. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol. 2004;160:407‐420. - PubMed

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