Clinical characteristics of adult and paediatric patients with familial hypercholesterolemia: A real-life cross-sectional study from the Turkish National Database

Alper Sonmez; Ibrahim Demirci; Cem Haymana; Ilker Tasci; Mustafa Okan Ayvalı; Naim Ata; Fatih Suheyl Ezgu; Fahri Bayram; Cem Barcin; Murat Caglayan; Mustafa Mahir Ülgü; Suayip Birinci; Lale Tokgozoglu; Ilhan Satman; Meral Kayikcioglu

doi:10.1016/j.atherosclerosis.2023.04.011

Clinical characteristics of adult and paediatric patients with familial hypercholesterolemia: A real-life cross-sectional study from the Turkish National Database

Atherosclerosis. 2023 Jun:375:9-20. doi: 10.1016/j.atherosclerosis.2023.04.011. Epub 2023 May 5.

Authors

Alper Sonmez¹, Ibrahim Demirci², Cem Haymana³, Ilker Tasci⁴, Mustafa Okan Ayvalı⁵, Naim Ata⁶, Fatih Suheyl Ezgu⁷, Fahri Bayram⁸, Cem Barcin⁹, Murat Caglayan¹⁰, Mustafa Mahir Ülgü⁵, Suayip Birinci¹¹, Lale Tokgozoglu¹², Ilhan Satman¹³, Meral Kayikcioglu¹⁴

Affiliations

¹ Ankara Guven Hospital, Department of Endocrinology and Metabolism, Ankara, Turkiye.
² University of Health Sciences, Gulhane Training and Research Hospital, Department of Endocrinology and Metabolism, Ankara, Turkiye.
³ University of Health Sciences, Gulhane Faculty of Medicine, Department of Endocrinology and Metabolism, Ankara, Turkiye.
⁴ University of Health Sciences, Gulhane Faculty of Medicine, Department of Internal Medicine, Ankara, Turkiye.
⁵ General Directorate of the Health Information Systems, Ministry of Health, Ankara, Turkiye.
⁶ Department of Strategy Development, Ministry of Health, Ankara, Turkiye.
⁷ Gazi University, Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkiye.
⁸ Erciyes University, Faculty of Medicine, Department of Endocrinology and Metabolism, Kayseri, Turkiye.
⁹ University of Health Sciences, Gulhane Faculty of Medicine, Department of Cardiology, Ankara, Turkiye.
¹⁰ University of Health Sciences, Yildirim Beyazit Training and Research Hospital, Department of Biochemistry, Ankara, Turkiye.
¹¹ Deputy Health Minister, Ministry of Health, Ankara, Turkiye.
¹² Hacettepe University, Faculty of Medicine, Department of Cardiology, Ankara, Turkiye.
¹³ Istanbul University, Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Endocrinology and Metabolism, Istanbul, Turkiye.
¹⁴ Ege University Faculty of Medicine, Department of Cardiology, Izmir, Turkiye. Electronic address: meral.kayikcioglu@gmail.com.

PMID: 37216728
DOI: 10.1016/j.atherosclerosis.2023.04.011

Abstract

Background and aims: Familial hypercholesterolemia (FH) is the most common cause of premature atherosclerotic cardiovascular disease (ASCVD). Türkiye is among the countries with the highest rate of ASCVD. However, no population-based study has been published so far on the prevalence of FH, demographic and clinical characteristics, burden of ASCVD, treatment compliance, and attainment of low-density lipoprotein cholesterol (LDL-C) targets.

Methods: We performed a study using the Turkish Ministry of Health's national electronic health records involving 83,063,515 citizens as of December 2021 dating back 2016. Adults fulfilling the diagnostic criteria of definite or probable FH according to the Dutch Lipid Network Criteria (DLNC), and children and adolescents fulfilling the criteria of probable FH according to the European Atherosclerosis Society (EAS) Consensus Panel report formed the study population (n = 157,790). The primary endpoint was the prevalence of FH.

Results: Probable or definite FH was detected in 0.63% (1 in 158) of the adults and 0.61% (1 in 164) of the total population. The proportion of adults with LDL-C levels >4.9 mmol/L (190 mg/dL) was 4.56% (1 in 22). The prevalence of FH among children and adolescents was 0.37% (1 in 270). Less than one-third of the children and adolescents, and two-thirds of young adults (aged 18-29) with FH were already diagnosed with dyslipidaemia. The proportion of adults and children and adolescents on lipid-lowering treatment (LLT) was 32.1% and 1.5%, respectively. The overall discontinuation rate of LLT was 65.8% among adults and 77.9% among children and adolescents. Almost no subjects on LLT were found to attain the target LDL-C levels.

Conclusions: This nationwide study showed a very high prevalence of FH in Türkiye. Patients with FH are diagnosed late and treated sub-optimally. Whether these findings may explain the high rates of premature ASCVD in Türkiye needs further investigation. These results denote the urgent need for country-wide initiatives for early diagnosis and effective management of FH patients.

Keywords: Familial hypercholesterolemia; Lipid lowering treatment; National database; Prevalence.

MeSH terms

Adolescent
Atherosclerosis* / diagnosis
Child
Cholesterol, LDL
Cross-Sectional Studies
Humans
Hyperlipoproteinemia Type II* / diagnosis
Hyperlipoproteinemia Type II* / drug therapy
Hyperlipoproteinemia Type II* / epidemiology
Young Adult

Substances

Cholesterol, LDL