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. 2022 Feb 9:13:849197.
doi: 10.3389/fgene.2022.849197. eCollection 2022.

Assessment of Associations Between Serum Lipoprotein (a) Levels and Atherosclerotic Vascular Diseases in Hungarian Patients With Familial Hypercholesterolemia Using Data Mining and Machine Learning

Ákos Németh  1   2 , Bálint Daróczy  3   4 , Lilla Juhász  1   2 , Péter Fülöp  1 , Mariann Harangi  1 , György Paragh  1
Affiliations

Assessment of Associations Between Serum Lipoprotein (a) Levels and Atherosclerotic Vascular Diseases in Hungarian Patients With Familial Hypercholesterolemia Using Data Mining and Machine Learning

Ákos Németh et al. Front Genet. .

Abstract

Background and aims: Premature mortality due to atherosclerotic vascular disease is very high in Hungary in comparison with international prevalence rates, though the estimated prevalence of familial hypercholesterolemia (FH) is in line with the data of other European countries. Previous studies have shown that high lipoprotein(a)- Lp(a) levels are associated with an increased risk of atherosclerotic vascular diseases in patients with FH. We aimed to assess the associations of serum Lp(a) levels and such vascular diseases in FH using data mining methods and machine learning techniques in the Northern Great Plain region of Hungary. Methods: Medical records of 590,500 patients were included in our study. Based on the data from previously diagnosed FH patients using the Dutch Lipid Clinic Network scores (≥7 was evaluated as probable or definite FH), we trained machine learning models to identify FH patients. Results: We identified 459 patients with FH and 221 of them had data available on Lp(a). Patients with FH had significantly higher Lp(a) levels compared to non-FH subjects [236 (92.5; 698.5) vs. 167 (80.2; 431.5) mg/L, p < .01]. Also 35.3% of FH patients had Lp(a) levels >500 mg/L. Atherosclerotic complications were significantly more frequent in FH patients compared to patients without FH (46.6 vs. 13.9%). However, contrary to several other previous studies, we could not find significant associations between serum Lp(a) levels and atherosclerotic vascular diseases in the studied Hungarian FH patient group. Conclusion: The extremely high burden of vascular disease is mainly explained by the unhealthy lifestyle of our patients (i.e., high prevalence of smoking, unhealthy diet and physical inactivity resulting in obesity and hypertension). The lack of associations between serum Lp(a) levels and atherosclerotic vascular diseases in Hungarian FH patients may be due to the high prevalence of these risk factors, that mask the deleterious effect of Lp(a).

Keywords: atherosclerosis; cardiovascular risk; data mining; familial hypercholesterolemia; lipoprotein(a).

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
Flowchart showing the structure of the study population, number of enrolled patients, and how the patients were divided into the groups, and subgroups.
FIGURE 2
FIGURE 2
Boxplots and whiskers of serum lipoprotein(a) levels in FH and non-FH patients. The length of the box represents the interquartile range (IQR), the horizontal line in the box interior represents the median, the whiskers represent the 1.5 IQR of the 25th quartile or 1.5 IQR of the 75th quartile.
FIGURE 3
FIGURE 3
Ratio of lifetime cardiovascular events (%) according to serum lipoprotein(a) level groups in all FH and non-FH patients with known lipoprotein(a) levels.
See this image and copyright information in PMC

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