HealthResJ, health, medicine, nursing, research https://ejournals.epublishing.ekt.gr/index.php/HealthResJ/sitemap

Familial hypercholesterolaemia in Greek females. An epidemiological study


Published: Jul 7, 2025
Keywords:
Familial hypercholesterolemia women incidence
Georgia Chasioti
Ioannis Vasiliadis
Nikoletta Rovina
Ioanna Dimopoulou
Pagona Lagiou
Elias Siempos
Stylianos Orfanos
Anastasia Kotanidou
Abstract

Introduction: Cardiovascular diseases are the leading cause of death worldwide. One of the risk factors for cardiovascular diseases is dyslipidemia, defined as the imbalance of lipids in the blood. Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism characterized by high levels of total cholesterol in plasma with harmful cardiovascular consequences starting in childhood.


Aim: The aim of the present study was to explore the frequency of familial hypercholesterolemia in the female population of Greece.


Material and Method: This is a cross-sectional observational study, in which individuals of Greek origin, residing in Greece, were selected. The study sample consisted of 1578 individuals. Data analysis was performed with IBM SPSS 21.0.


Results: The mean age of the women was 48.3 years. The prevalence of FH was 1.9%, with 1.8% of women having a probable diagnosis of FH and 0.1% having a definite diagnosis of FH. Familial hypercholesterolemia was more common in women with artery hypertension (p<0.001), diabetes mellitus (p=0.01) and coronary artery disease (p<0.001). Familial hypercholesterolemia was more common in older women (p<0.001) and with a higher body mass index (p=0.02).


Conclusions: Optimal screening and diagnosis of FH are of primary importance for the prevention of premature cardiovascular events. Management of patients with FH requires an interprofessional approach, including primary care providers, cardiologists, endocrinologists, dietitians, pharmacists, and nurses, to improve outcomes.

Article Details
  • Section
  • Original Articles
Downloads
Download data is not yet available.
References
Leigh, S. E., Foster, A. H., Whittall, R. A., Hubbart, C. S., & Humphries, S. E. Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. Annals of human genet-ics, 2008;72(Pt 4), 485–498.
Kolovou Genoveva, "Lipid metabolism of the central nervous system" KAMBYLIS Publications, 2020.
Leigh, S., Futema, M., Whittall, R., Taylor-Beadling, A., Williams, M., den Dunnen, J. T., & Humphries, S. E. The UCL low-density lipoprotein receptor gene variant data-base: pathogenicity update. Journal of medical genetics 2017;54(4), 217–223.
Alonso, R., Perez de Isla, L., Muñiz-Grijalvo, O., Diaz-Diaz, J. L., & Mata, P. Familial Hypercholesterolaemia Diagnosis and Management. European cardiology 2018;13(1),14–20.
Benlian P-28, Slyper AH. Clinical review 168: What vascu-lar ultrasound testing has revealed about pediatric ather-ogenesis, and a potential clinical role for ultrasound in pediatric risk assessment. J Clin Endocrinol Metab 2004;89(7):3089-95.
Benn M, Watts GF, Tybjærg-Hansen A, Nordestgaard BG. Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. Eur Heart J 2016;37(17):1384-94.
Hopkins PN, Toth PP, Ballantyne CM, Rader DJ., National Lipid Association Expert Panel on Familial Hypercholes-terolemia. Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011;5(3 Suppl):S9-17.
Lui DTW, Lee ACH, Tan KCB. Management of Familial Hypercholesterolemia: Current Status and Future Perspec-tives. J Endocr Soc. 2020;5(1):bvaa122. Published 2020 Aug 21. doi:10.1210/jendso/bvaa122.
Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents; National Heart, Lung, and Blood Institute. Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: Summary report. Pediatrics. 2011;128(Suppl 5):S213–56.
Daniels SR, Gidding SS, de Ferranti SD. National Lipid Association Expert Panel on Familial Hypercholesterole-mia. Pediatric aspects of familial hypercholesterolemias: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011;5(3 Suppl):S30–7.
Deaton C, Froelicher ES, Wu LH, Ho C, Shishani K, Jaarsma T. The Global Burden of Cardiovascular Disease. Journal of Cardiovascular Nursing. 2011; 26(4):S5-S14.
Pajak A, Szafraniec K, Polak M, et al. Prevalence of familial hypercholesterolemia: a meta-analysis of six large, obser-vational, population-based studies in Poland. Arch Med Sci. 2016;12(4):687-696. doi:10.5114/aoms.2016.59700
Lewey J, Shrank WH, Bowry AD, Kilabuk E, Brennan TA, Choudhry NK, et al. Gender and racial disparities in ad-herence to statin therapy: A meta-analysis. Am. Heart J. 2013;165:665–678. doi: 10.1016/j.ahj.2013.02.011.
Barkas F, Rizos CV, Liamis G, Skoumas I, Garoufi A, Rallidis L, Kolovou G, Tziomalos K, Skalidis E, Sfikas G, Kotsis V, Doumas M, Anagnostis P, Lambadiari V, Anastasiou G, Koutagiar I, Attilakos A, Kiouri E, Kolovou V, Poly-chronopoulos G, Koutsogianni AD, Zacharis E, Koumaras C, Antza C, Boutari C, Liberopoulos E. Obesity and athero-sclerotic cardiovascular disease in adults with heterozy-gous familial hypercholesterolemia: An analysis from HELLAS-FH registry. J Clin Lipidol. 2024 May-Jun;18(3):e394-e402. doi: 10.1016/j.jacl.2024.01.005. Epub 2024 Jan 24. PMID: 38331687.
Bretsias G, Mammas I, Linardakis M, Kafatos A. Overweight and obesity in relation to cardiovascoular disease risk fac-tors among medical students in Crete, Greece BMC Public Health 2003;3:3.
Zingg S, Collet TH, Locatelli I, Nanchen D, Depairon M, Bovet P, Cornuz J, Rodondi N. Associa-tions Between Cardiovascular Risk Factors, Inflammation, and Progression of Carotid Atherosclero-sis Among Smokers.Nicotine Tob Res. 2016;18(6):1533-8.
Makino M, Hashizume M, Yasushi M, Tsuboi K, Denner-stein L. Factors associated with abnormal eating attitudes among female college students in Japan. Arch Womens Ment Health. 2006 Jul;9(4):203-8.
Balla, S., Ekpo, E. P., Wilemon, K. A., Knowles, J. W., & Ro-driguez, F. Women Living with Familial Hypercholesterol-emia: Challenges and Considerations Surrounding Their Care. Current Atherosclerosis Reports, 2020; 22(10): 60. https://doi.org/10.1007/s11883-020-00881-5
Najam O, Ray KK. Familial Hypercholesterolemia: a Review of the Natural History, Diagnosis, and Management. Car-diol Ther. 2015;4(1):25-38. doi:10.1007/s40119-015-0037-z
Mariana Garcia, Sharon L Mulvagh, C Noel Bairey Merz, Julie E Buring, JoAnn E Manson. Cardiovascular Disease in Women: Clinical Perspectives. Circ Res. 2016 Apr 15;118(8):1273-93.
Schultz WM, Kelli HM, Lisko JC, et al. Socioeconomic Sta-tus and Cardiovascular Outcomes: Challenges and Inter-ventions. Circulation. 2018;137(20):2166-2178. doi:10.1161/CIRCULATIONAHA.117.029652
Most read articles by the same author(s)