Heterozygous Familial Hypercholesterolemia
Conditions
Keywords
MASLD, Heterozygous Familial Hypercholesterolemia, steatosis, fibrosis
Brief summary
The main goal of the STEATO-FH study is to determine the prevalence of liver steatosis within the Heterozygous Familial Hypercholesterolemia patient population.
Detailed 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.
Interventions
DIAGNOSTIC_TESTFibroscan
Evaluation of the prevalence of steatosis by measuring ultrasound attenuation with Fibroscan® (non-invasive method, at a distance from a meal (3h fasting)).
OTHERSample collection
20 mL whole blood sample
Sponsors
University Hospital, Angers
Rennes University Hospital
Nantes University Hospital
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
35 Years to No maximum
Healthy volunteers
No
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)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Presence of steatosis in HeFH patients | 1 day | Presence of steatosis in HeFH patients assessed by Fibroscan® measurement of CAP (Controlled Attenuation Parameter) ≥ 275 dB/m (Berzigotti et al., 2021) |
Secondary
| Measure | Time frame |
|---|---|
| Establish the prevalence of hepatic fibrosis | 1 day |
| Evaluate the prevalence of diabetes among HeFH patients, according to the presence or absence of steatosis or fibrosis | 1 day |
| Evaluate the association between anthropometric measures (weight, height, waist circumference, and calculated BMI) and the presence of hepatic steatosis or fibrosis. | 1 day |
| Evaluate the proportion of patients with hepatic steatosis or fibrosis according to the nature of the genetic mutation | 1 day |
| Evaluate the link between the presence of hepatic steatosis or fibrosis and the risk of cardiovascular disease | 12 months |
| Determine factors associated with the presence of steatosis or hepatic fibrosis | 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 | 1 day |
Other
| Measure | Time frame |
|---|---|
| Identify blood biomarkers associated with hepatic steatosis and fibrosis | 1 day |
Countries
France
Contacts
Primary ContactSarra SMATI
Outcome results
None listed