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

Launched by NANTES UNIVERSITY HOSPITAL · Oct 8, 2024

Keywords

ClinConnect Summary

The STEATO-FH study is researching how common liver fat buildup, known as steatosis, is in people who have a condition called heterozygous familial hypercholesterolemia. This condition means that individuals have high cholesterol levels due to a genetic change. The study aims to find out how many patients with this condition also have liver steatosis, which can impact their overall health.

To be eligible for this study, participants should be 35 years or older and have been diagnosed with familial hypercholesterolemia based on specific genetic tests. They must also be willing to take part in the study without any objections. However, individuals who are pregnant, have certain liver diseases, or are taking specific medications that could affect the liver are not allowed to participate. Those who join the study can expect to attend consultations at designated hospitals in Nantes, Rennes, or Angers, where they will undergo assessments related to their liver health and cholesterol levels. This research is important as it may help improve understanding and treatment options for patients with these conditions.

Gender

ALL

Eligibility criteria

• 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)