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

Nantes University Hospital200 enrolled

Overview

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

Investigators will include patients being followed for heterozygous familial hypercholesterolemia in their centers. The prevalence of hepatic steatosis will be studied non-invasively, using Fibroscan ®. In addition, coronary calcium score (CAC scores) will be evaluated and a biocollection will be performed.

Study Type

OBSERVATIONAL

Enrollment

200

Conditions

Heterozygous Familial Hypercholesterolemia

Interventions

FibroscanDIAGNOSTIC_TEST

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

Sample collectionOTHER

20 mL whole blood sample

Eligibility

Sex: ALLMin age: 35 Years

Medical Language ↔ Plain English

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)

Locations (3)

CHU angers

Angers, France

NOT_YET_RECRUITING

CHU Nantes

Nantes, France

RECRUITING

Rennes University Hospital

Rennes, France

NOT_YET_RECRUITING

Outcomes

Primary Outcomes

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)

Time frame: 1 day

Secondary Outcomes

Establish the prevalence of hepatic fibrosis

Time frame: 1 day

Evaluate the prevalence of diabetes among HeFH patients, according to the presence or absence of steatosis or fibrosis

Time frame: 1 day

Evaluate the association between anthropometric measures (weight, height, waist circumference, and calculated BMI) and the presence of hepatic steatosis or fibrosis.

Time frame: 1 day

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

Time frame: 1 day

Evaluate the proportion of patients with hepatic steatosis or fibrosis according to the nature of the genetic mutation

Time frame: 1 day

Evaluate the link between the presence of hepatic steatosis or fibrosis and the risk of cardiovascular disease

Time frame: 12 months

Determine factors associated with the presence of steatosis or hepatic fibrosis

Time frame: 1 day

Central Contacts

Sarra SMATI

CONTACT

02 53 48 27 19 sarra.grangeon@chu-nantes.fr

Data from ClinicalTrials.gov

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