Assessment of the Prevalence of Steatotic Liver Disease Associated with Metabolic Dysfunction in Patients with Heterozygous Familial Hypercholesterolemia (STEATO-FH)

Nantes University Hospital (NUH)

Status: Enrolling

Conditions: Heterozygous Familial Hypercholesterolemia

Treatments: Other: Sample collection; Diagnostic Test: Fibroscan

Study type: Observational

Funder types: Other

Identifiers

NCT06634160

RC24_0064

2024-A01647-40 (Other Identifier)

Details and patient eligibility

About

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

Full 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.

Enrollment: 200 estimated patients

Sex: All

Ages: 35+ years old

Volunteers: No Healthy Volunteers

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)

Trial design

200 participants in 1 patient group

Study population

Description:

The study population must correspond to the research inclusion criteria. A fibroscan will be performed on each patient enrolled in the study. Each participant will also be offered a biological sample for an ancillary study.

Treatment:

Diagnostic Test: Fibroscan

Other: Sample collection