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
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