{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T12:48:12Z","timestamp":1782910092932,"version":"3.54.5"},"reference-count":38,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>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 &lt;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.<\/jats:p>","DOI":"10.3390\/jcm15135127","type":"journal-article","created":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T10:41:01Z","timestamp":1782902461000},"page":"5127","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prevalence, Clinical Characteristics, and Therapeutic Underachievement in Familial Hypercholesterolemia: Results from the GRegistry-FH Population-Based Study in Greece"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8788-4555","authenticated-orcid":false,"given":"Genovefa","family":"Kolovou","sequence":"first","affiliation":[{"name":"Preventive Cardiology, Lipoprotein Apheresis and Lipid Disorders Clinic, Cardiometabolic Center, Metropolitan Hospital, 9 Ethn. Makariou& 1 El Venizelou Str, 185 47 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stamatis","family":"Makrygiannis","sequence":"additional","affiliation":[{"name":"First Department of Cardiology, \u201cHygeia\u201d Diagnostic and Therapeutic Centre of Athens, 151 23 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3776-5296","authenticated-orcid":false,"given":"Niki","family":"Pavlatou","sequence":"additional","affiliation":[{"name":"Pathological and Surgical Nursing, University of West Attica, 115 27 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Marvaki","sequence":"additional","affiliation":[{"name":"Department of Nursing, University of West Attica, 190 03 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Kadda","sequence":"additional","affiliation":[{"name":"Department of Electrophysiology and Pacing, Onassis Cardiac Surgery Centre, 174 55 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aikaterini","family":"Marvaki","sequence":"additional","affiliation":[{"name":"Katerini Hospital, 601 33 Katerini, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petros","family":"Kalogeropoulos","sequence":"additional","affiliation":[{"name":"Preventive Cardiology, Lipoprotein Apheresis and Lipid Disorders Clinic, Cardiometabolic Center, Metropolitan Hospital, 9 Ethn. Makariou& 1 El Venizelou Str, 185 47 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vana","family":"Kolovou","sequence":"additional","affiliation":[{"name":"Preventive Cardiology, Lipoprotein Apheresis and Lipid Disorders Clinic, Cardiometabolic Center, Metropolitan Hospital, 9 Ethn. Makariou& 1 El Venizelou Str, 185 47 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasios","family":"Tzenalis","sequence":"additional","affiliation":[{"name":"Pathological Nursing\/Intensive Care Unit, University of Patras, 570 13 Patra, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeimpek","family":"Emre","sequence":"additional","affiliation":[{"name":"Radiology Department, Hospital of Xanthi, 671 00 Xanthi, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7306-713X","authenticated-orcid":false,"given":"Edison","family":"Jahaj","sequence":"additional","affiliation":[{"name":"Dermatology Department, Evangelismos General Hospital, 106 76 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoi","family":"Kasiara","sequence":"additional","affiliation":[{"name":"Sports and Health, School of Medicine & School of Physical Education and Sport Science, Aristotle University of Thessaloniki, 731 00 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilias","family":"Giannakoulis","sequence":"additional","affiliation":[{"name":"Argolidas General Hospital, 212 31 Argos, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-9461-1815","authenticated-orcid":false,"given":"Ioannis","family":"Tsolakoglou","sequence":"additional","affiliation":[{"name":"General Hospital of Thessaloniki \u2018Agios Pavlos\u2019, 551 34 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4003-1739","authenticated-orcid":false,"given":"Nikolaos","family":"Tsaloukidis","sequence":"additional","affiliation":[{"name":"Department of Nursing, University General Hospital \u2018ATTIKO\u2019, 104 42 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafailia","family":"Koulaxidou","sequence":"additional","affiliation":[{"name":"Biomedical Methods and Technology in Diagnosis, 104 38 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Anagnostopoulou","sequence":"additional","affiliation":[{"name":"Molecular Genetics and Genomics Department, Medical Neoscreen Ltd., 152 35 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasiliki","family":"Giannakopoulou","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Tzanio Hospital, 185 36 Piraeus, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3968-5719","authenticated-orcid":false,"given":"Georgios","family":"Goumas","sequence":"additional","affiliation":[{"name":"Cardiology Clinic, Athens Euroclinic, 115 21 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sotiria","family":"Limberi","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Sotiria Hospital, 115 27 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Despina","family":"Perrea","sequence":"additional","affiliation":[{"name":"Laboratory of Experimental Surgery and Surgical Research \u2018N.S. Christeas\u2019, Medical School, National and Kapodistrian University of Athens, 115 27 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Ampartzidou","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Metropolitan Hospital, 185 47 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2376-5973","authenticated-orcid":false,"given":"Dimitrios","family":"Kosmidis","sequence":"additional","affiliation":[{"name":"Department of Nursing, Democritus University of Thrace, 642 00 Alexandroupolis, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Stravogianni","sequence":"additional","affiliation":[{"name":"Anesthesiology Department, Katerini\u2019s General Hospital, 601 32 Katerini, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athanasia","family":"Striki","sequence":"additional","affiliation":[{"name":"General Hospital of Athens \u201cG. Gennimatas\u201d, 115 27 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2459-4806","authenticated-orcid":false,"given":"Michael I.","family":"Kourakos","sequence":"additional","affiliation":[{"name":"Department of Nursing, School of Health Sciences, University of Ioannina, 455 00 Ioannina, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioannis","family":"Hoursalas","sequence":"additional","affiliation":[{"name":"School of Medicine, European University Cyprus, 220 25 Nicosia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9904-3558","authenticated-orcid":false,"given":"Charalambos","family":"Vlachopoulos","sequence":"additional","affiliation":[{"name":"First Department of Cardiology, Medical School, National and Kapodistrian University of Athens, Hippokration Hospital, 115 27 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7349-0309","authenticated-orcid":false,"given":"Loukianos","family":"Rallidis","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Medical School, National and Kapodistrian University of Athens, Attikon Hospital, 124 61 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0894-2644","authenticated-orcid":false,"given":"Niki","family":"Katsiki","sequence":"additional","affiliation":[{"name":"School of Medicine, European University Cyprus, 220 25 Nicosia, Cyprus"},{"name":"Department of Nutritional Sciences and Dietetics, International Hellenic University, 574 00 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Melidonis","sequence":"additional","affiliation":[{"name":"Metropolitan Hospital, Cardiometabolic Center, 185 47 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanos","family":"Foussas","sequence":"additional","affiliation":[{"name":"Cardiology Department, Metropolitan Hospital General, 155 62 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3958-2266","authenticated-orcid":false,"given":"Haralampos","family":"Milionis","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, School of Medicine, University of Ioannina, 451 10 Ioannina, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7162-3323","authenticated-orcid":false,"given":"Evaggelos","family":"Liberopoulos","sequence":"additional","affiliation":[{"name":"First Department of Propaedeutic Internal Medicine, Medical School, Laiko General Hospital, National and Kapodistrian University of Athens, 115 27 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Bilianou","sequence":"additional","affiliation":[{"name":"Hellenic College of Atherosclerosis Treatment, Cardiology Clinic, \u201cTzaneio\u201d General Hospital, 185 36 Piraeus, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"17093","DOI":"10.1038\/nrdp.2017.93","article-title":"Familial hypercholesterolaemia","volume":"3","author":"Defesche","year":"2017","journal-title":"Nat. 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