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

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

Recruiting
35 years and older
All
Phase N/A

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Overview

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

Description

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.

Eligibility

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)

Study details
    Heterozygous Familial Hypercholesterolemia

NCT06634160

Nantes University Hospital

3 September 2025

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