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Atherosclerosis. 2018 Oct;277:308-313. doi: 10.1016/j.atherosclerosis.2018.08.017.

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

Author information

1
Department of Internal Medicine, Faculty of Medicine, University of Ioannina, Ioannina, Greece.
2
Department of Cardiology, Hippokration Hospital, Athens, Greece.
3
First Propedeutic Department of Internal Medicine, School of Medicine, Aristotle University of Thessaloniki, AHEPA Hospital, Thessaloniki, Greece.
4
Department of Internal Medicine, Aristotle University of Thessaloniki Medical School, Papageorgiou Hospital, Thessaloniki, Greece.
5
Second Department of Cardiology, University of Athens Medical School, Attiko University Hospital, Athens, Greece.
6
Second Department of Pediatrics, Medical School, National &Kapodistrian University of Athens, "P & A Kyriakou" Children's Hospital, Greece.
7
2nd Propedeutic Department of Internal Medicine, Aristotle University of Thessaloniki Medical School, Hippokration Hospital, Thessaloniki, Greece.
8
Department of Cardiology, University Hospital of Heraklion, Crete, Greece.
9
Department of Cardiology, Onassis Cardiac Surgery Centre, Athens, Greece.
10
Department of Internal Medicine, School of Medicine, University of Crete, Heraklion, Greece.
11
Department of Internal Medicine, Faculty of Medicine, University of Ioannina, Ioannina, Greece. Electronic address: elibero@cc.uoi.gr.

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.

KEYWORDS:

Cardiovascular disease; Familial hypercholesterolemia; Greece; Hellenic Familial Hypercholesterolemia Registry; Hypolipidemic treatment; Registry

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