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RECRUITINGOBSERVATIONAL

Assessment of the Prevalence of Steatotic Liver Disease Associated With Metabolic Dysfunction in Patients With Heterozygous Familial Hypercholesterolemia

Assessment of Metabolic Dysfunction-associated Steatotic Liver Disease (MASLD) Prevalence in Patients With Heterozygous Familial Hypercholesterolemia (HeFH): the STEATO-FH Study

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

The main goal of the STEATO-FH study is to determine the prevalence of liver steatosis within the Heterozygous Familial Hypercholesterolemia patient population.

Who May Be Eligible (Plain English)

Who May Qualify: - 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) Who Should NOT Join This Trial: - Protected patients: minors, adults under guardianship, curatorship and/or safeguard of justice - Pregnant or breast-feeding - Active viral hepatitis - Hemochromatosis - Other genetic or autoimmune hepatitis - Current treatment with a drug likely to cause hepatic steatosis, including amiodarone, carbamazepine, tamoxifen, valproate, clozapine, anti-retrovirals - Current oral corticosteroid therapy unless dose has been stable for ≥ 3 months - Current pathological alcohol consumption (≥ 60 g/day in men and ≥ 50 g/day in women) Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
Inclusion Criteria: * 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) Exclusion Criteria: * Protected patients: minors, adults under guardianship, curatorship and/or safeguard of justice * Pregnant or breast-feeding * Active viral hepatitis * Hemochromatosis * Other genetic or autoimmune hepatitis * Current treatment with a drug likely to cause hepatic steatosis, including amiodarone, carbamazepine, tamoxifen, valproate, clozapine, anti-retrovirals * Current oral corticosteroid therapy unless dose has been stable for ≥ 3 months * Current pathological alcohol consumption (≥ 60 g/day in men and ≥ 50 g/day in women)

Treatments Being Tested

DIAGNOSTIC_TEST

Fibroscan

Evaluation of the prevalence of steatosis by measuring ultrasound attenuation with Fibroscan® (non-invasive method, at a distance from a meal (3h fasting)).

OTHER

Sample collection

20 mL whole blood sample

Locations (3)

CHU angers
Angers, France
CHU Nantes
Nantes, France
Rennes University Hospital
Rennes, France