Characteristics and management of 1093 patients with clinical diagnosis of familial hypercholesterolemia in Greece: Data from the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH)

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...

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Veröffentlicht in:Atherosclerosis 2018-10, Vol.277, p.308-313
Hauptverfasser: Rizos, Christos V., Elisaf, Moses S., Skoumas, Ioannis, Tziomalos, Kostantinos, Kotsis, Vasilios, Rallidis, Loukianos, Garoufi, Anastasia, Athyros, Vasilios G., Skalidis, Emmanouil, Kolovou, Genovefa, Koutagiar, Iosif, Papagianni, Marianthi, Antza, Christina, Katsiki, Niki, Ganotakis, Emmanouil, Liberopoulos, Evangelos N.
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Sprache:eng
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Zusammenfassung: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. 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. 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. 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. •Familial hypercholesterolemia (FH) in Greece is diagnosed at a late age.•FH patients have a high burden of personal and family history of premature CVD.•FH patients are undertreated, with only a small percentage achieving LDL-C goals.
ISSN:0021-9150
1879-1484
DOI:10.1016/j.atherosclerosis.2018.08.017