The main goal of the STEATO-FH study is to determine the prevalence of liver steatosis within the Heterozygous Familial Hypercholesterolemia patient population.
Patient aged 35 or over
Consultation at Nantes, Rennes or Angers University Hospital during the inclusion period
With a diagnosis of familial hypercholesterolemia defined by the presence of a genetic variant, ACMG classes 4 & 5 on LDLR, APOB or PCSK9
Patient not objecting to inclusion in study (no written objection)
Protected patients: minors, adults under guardianship, curatorship and/or safeguard of justice
Pregnant or breast-feeding
Active viral hepatitis
Hemochromatosis
Eligible patients are those with definite familial hypercholesterolemia (genetic variant, ACMG classes 4 \& 5 on LDLR, APOB or PCSK9), consulting during the inclusion period and age ≥ 35 years.
Case-only
Prospective
Fibroscan
Diagnostic testEvaluation of the prevalence of steatosis by measuring ultrasound attenuation with Fibroscan® (non-invasive method, at a distance from a meal (3h fasting)).
Sample collection
Other intervention20 mL whole blood sample
Presence of steatosis in HeFH patients
Presence of steatosis in HeFH patients assessed by Fibroscan® measurement of CAP (Controlled Attenuation Parameter) ≥ 275 dB/m (Berzigotti et al., 2021)
Establish the prevalence of hepatic fibrosis
Evaluate the prevalence of diabetes among HeFH patients, according to the presence or absence of steatosis or fibrosis
Evaluate the association between anthropometric measures (weight, height, waist circumference, and calculated BMI) and the presence of hepatic steatosis or fibrosis.
Evaluate the association between LDL-cholesterol and time of exposure to elevated LDL-cholesterol (Gallo et al. J Clin Lipidol 2017) with the prevalence of steatosis or fibrosis
Identify blood biomarkers associated with hepatic steatosis and fibrosis
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Nantes University Hospital
Lead sponsor
University Hospital, Angers
Collaborator
Rennes University Hospital
Collaborator
