Prevalence, Clinical Characteristics, and Therapeutic Underachievement in Familial Hypercholesterolemia: Results from the GRegistry-FH Population-Based Study in Greece
Background and Aim: Familial hypercholesterolemia (FH) is a genetic disorder leading to severely elevated LDL-C and premature atherosclerotic cardiovascular disease (ASCVD). This study, the GRegistry-FH, provides the first population-based estimation of heterozygous FH (HeFH) prevalence and the clinical profile of affected individuals in Greece. Methods: A cross-sectional, questionnaire-based study was conducted on a representative sample of 7704 adults across 22 Greek regions. HeFH was assessed using the Simon Broome and Dutch Lipid Clinic Network (DLCN) criteria. Clinical characteristics and lipid-lowering therapy (LLT) attainment were compared between individuals with the HeFH phenotype and the general population. Results: The prevalence of HeFH was estimated at 1 in 188 individuals (Simon Broome) and 1 in 183 (DLCN). Individuals with the HeFH phenotype were significantly older and exhibited a much higher prevalence of hypertension (48.8% vs. 23.9%). Notably, individuals with the HeFH phenotype experienced myocardial infarction an average of 14 years earlier than non-FH individuals. Although 80.5% of individuals with the HeFH phenotype were on LLT, only 18.2% achieved LDL-C goals. None of the individuals with the HeFH phenotype with established ASCVD reached the target LDL-C of <1.4 mmol/L (55 mg/dL). Conclusions: HeFH is highly prevalent in Greece but remains largely underdiagnosed in younger ages and suboptimally treated. Despite high treatment rates, the vast majority of individuals with the HeFH phenotype fail to reach protective LDL-C targets. These findings emphasize the need for earlier identification and more aggressive combination lipid-lowering strategies.
Authors
- Dimitrios Kosmidis (ORCID: https://orcid.org/0000-0003-2376-5973)
- Christina Marvaki
- Nikolaos Tsaloukidis
- Charalambos Vlachopoulos (ORCID: https://orcid.org/0000-0002-9904-3558)
- Lοukianos S. Rallidis (ORCID: https://orcid.org/0000-0002-7349-0309)
- Vana Kolovou
- Niki Pavlatou (ORCID: https://orcid.org/0000-0003-3776-5296)
- Genovefa Kolovou (ORCID: https://orcid.org/0000-0001-8788-4555)
- Aikaterini Marvaki
- Haralampos J Milionis (ORCID: https://orcid.org/0000-0003-3958-2266)
- Niki Katsiki (ORCID: https://orcid.org/0000-0003-0894-2644)
- Michael Κourakos (ORCID: https://orcid.org/0000-0002-2459-4806)
- O Ampartzidou
- Όλγα Καδδά (ORCID: https://orcid.org/0000-0002-4717-3529)
- Evangelos Liberopoulos (ORCID: https://orcid.org/0000-0002-7162-3323)
- Athanasia Striki (ORCID: https://orcid.org/0000-0002-2707-8014)
- Edison Jahaj (ORCID: https://orcid.org/0000-0002-7306-713X)
- Anastasios Tzenalis (ORCID: https://orcid.org/0000-0002-6853-8953)
- Andreas Melidonis
- Ioannis Tsolakoglou (ORCID: https://orcid.org/0009-0006-9461-1815)
- S. Foussas
- Zeimpek Emre
- Zoi Kasiara
- Ilias Giannakoulis
- Rafailia Koulaxidou
- Georgios Goumas
- Vasiliki Giannakopoulou
- Despina Perrea
- Stamatis Makrygiannis
- Helen Bilianou
- Ioannis Hoursalas
- Katherine Anagnostopoulou
- Maria Stravogianni
- Sotiria Limberi
- Petros Kalogeropoulos
Institutions
- Democritus University of Thrace (GR)
- University of Patras (GR)
- International Hellenic University (GR)
- University of Ioannina (GR)
- National and Kapodistrian University of Athens (GR)
- European University Cyprus (CY)
- Aristotle University of Thessaloniki (GR)
- Agios Pavlos General Hospital (GR)
- University of West Attica (GR)
- General Hospital of Athens G. Genimatas (GR)
- Athens Technology Center (Greece) (GR)
- Laiko General Hospital of Athens (GR)
- Onassis Cardiac Surgery Center (GR)
- Hygeia Hospital (GR)
- Tzaneion General Hospital (GR)
- Athens Medical Center (GR)
- University General Hospital Attikon (GR)
- Eginition Hospital (GR)
- KAT General Hospital of Attica (GR)
- Metropolitan Hospital (GR)
- Athens Euroclinic (GR)
- Henry Dunant Hospital (GR)
- Argo (Greece) (GR)
- Hellenic College of Treatment of Atherosclerosis (GR)
- Hippocration General Hospital (GR)
- Evangelismos Hospital (GR)
- Sotiria General Hospital (GR)
Publication Details
- Journal
- Journal of Clinical Medicine
- Published
- 2026-07-01
- DOI
- https://doi.org/10.3390/jcm15135127
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00