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Updated: Jul 16, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
10:56

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

Prevalence, Clinical Characteristics, and Therapeutic Underachievement in Familial Hypercholesterolemia: Results from

Genovefa Kolovou1, Stamatis Makrygiannis2, Niki Pavlatou3

  • 1Preventive Cardiology, Lipoprotein Apheresis and Lipid Disorders Clinic, Cardiometabolic Center, Metropolitan Hospital, 9 Ethn. Makariou& 1 El Venizelou Str, 185 47 Athens, Greece.

Journal of Clinical Medicine
|July 15, 2026
PubMed

Insights

Familial hypercholesterolemia (FH) is common in Greece, affecting 1 in 183 people. Despite treatment, most patients do not reach LDL-C goals, highlighting the need for earlier diagnosis and better treatment strategies.

Area of Science:

  • Cardiology
  • Genetics
  • Public Health

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder causing high LDL-C and early cardiovascular disease.
  • Population-based data on heterozygous FH (HeFH) prevalence and clinical characteristics in Greece are lacking.

Purpose of the Study:

  • To estimate the prevalence of HeFH in Greece.
  • To describe the clinical profile and treatment attainment of individuals with HeFH in Greece.

Main Methods:

  • A cross-sectional study of 7704 adults across Greece using Simon Broome and Dutch Lipid Clinic Network (DLCN) criteria.
  • Comparison of clinical characteristics and lipid-lowering therapy (LLT) attainment between HeFH phenotype individuals and the general population.

Main Results:

  • HeFH prevalence was estimated at 1 in 188 (Simon Broome) and 1 in 183 (DLCN).
  • HeFH patients had higher rates of hypertension and experienced myocardial infarction 14 years earlier.
  • 80.5% of HeFH patients received LLT, but only 18.2% achieved LDL-C goals; none with ASCVD reached target LDL-C.

Conclusions:

  • HeFH is prevalent in Greece but underdiagnosed and undertreated, particularly in younger individuals.
  • Current LLT strategies are insufficient to achieve target LDL-C levels in most HeFH patients.
  • Earlier identification and more aggressive combination therapies are crucial for managing HeFH and preventing premature cardiovascular events.

Keywords:
GreeceLDL cholesterolcardiovascular riskfamilial hypercholesterolemialipid-lowering therapy

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