@article{3122999,
    title = "Characteristics and management of 1093 patients with clinical diagnosis of familial hypercholesterolemia in Greece: Data from the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH)",
    author = "Rizos, C.V. and Elisaf, M.S. and Skoumas, I. and Tziomalos, K. and Kotsis, V. and Rallidis, L. and Garoufi, A. and Athyros, V.G. and Skalidis, E. and Kolovou, G. and Koutagiar, I. and Papagianni, M. and Antza, C. and Katsiki, N. and Ganotakis, E. and Liberopoulos, E.N.",
    journal = "Atherosclerosis",
    year = "2018",
    volume = "277",
    pages = "308-313",
    publisher = "Elsevier Ireland Ltd",
    issn = "0021-9150",
    doi = "10.1016/j.atherosclerosis.2018.08.017",
    keywords = "atorvastatin;  ezetimibe;  high density lipoprotein cholesterol;  lipoprotein A;  low density lipoprotein cholesterol;  rosuvastatin;  stanozolol;  biological marker;  hypocholesterolemic agent;  low density lipoprotein cholesterol, adult;  Article;  cardiovascular risk;  child;  cholesterol blood level;  clinical feature;  familial hypercholesterolemia;  family history;  female;  Greece;  human;  lipoprotein blood level;  major clinical study;  male;  priority journal;  register;  school child;  blood;  cardiovascular disease;  clinical trial;  down regulation;  familial hypercholesterolemia;  genetic predisposition;  genetics;  heredity;  middle aged;  multicenter study;  pedigree;  phenotype;  prevalence;  risk assessment;  risk factor;  time factor;  treatment outcome, Adult;  Anticholesteremic Agents;  Biomarkers;  Cardiovascular Diseases;  Cholesterol, LDL;  Down-Regulation;  Female;  Genetic Predisposition to Disease;  Greece;  Heredity;  Humans;  Hyperlipoproteinemia Type II;  Male;  Middle Aged;  Pedigree;  Phenotype;  Prevalence;  Registries;  Risk Assessment;  Risk Factors;  Time Factors;  Treatment Outcome",
    abstract = "Background and aims: Although familial hypercholesterolemia (FH) is one of the most common genetic disorders, it remains largely underdiagnosed and undertreated. The Hellenic Atherosclerosis Society has established the Hellenic Familial Hypercholesterolemia (HELLAS-FH) Registry, part of the Familial Hypercholesterolemia Studies Collaboration (FHSC), to evaluate the characteristics and management of patients with FH in Greece. Methods: Patients with diagnosed FH were recruited by a network of sites throughout Greece. The prevalence of cardiovascular disease (CVD) risk factors, as well as management of FH, was recorded. Results: This interim analysis included 1093 patients (556 male; 950 adults). The median age of FH diagnosis was 42.2 years (interquartile range 27.2–53.0). A family history of CVD was present in 47.8%, while 21.1% of patients had a personal history of CVD. At diagnosis, low-density lipoprotein cholesterol (LDL-C) was 241 ± 76 mg/dL in adults and 229 ± 57 mg/dL in children. Overall, 63.1% of the patients were receiving hypolipidemic drug treatment, mainly statins, at inclusion in the registry. Mean LDL-C of patients receiving drug treatment was 154 ± 76 mg/dL in adults and 136 ± 47 mg/dL in children. The majority of treated patients (87.9%) did not achieve LDL-C targets. Conclusions: FH in Greece is characterized by a significant delay in diagnosis and a high prevalence of both family and personal history of established CVD. The vast majority of FH patients do not achieve LDL-C targets. Improved awareness and management of FH are definitely needed. © 2018 Elsevier B.V."
}