Study of Steatotic Liver Disease in Patients with Heterozygous Familial Hypercholesterolemia Aged 35 and Older

What this Trial Is About

This research aims to find out how common liver steatosis is in patients with heterozygous familial hypercholesterolemia HeFH, a genetic condition affecting cholesterol levels. The study focuses on the prevalence of metabolic dysfunction-associated steatotic liver disease MASLD among this group. Researchers are also exploring connections between liver health and cardiovascular risk factors. Participants will undergo a Fibroscan, a non-invasive ultrasound-based test to measure liver steatosis after fasting for at least three hours. In addition, biological samples will be collected for further analysis. The study will measure coronary calcium scores and evaluate various health factors such as diabetes presence, cholesterol levels, body measurements, and genetic mutations related to liver and heart health. During the study, participants will be assessed at their hospital consultations, including Fibroscan testing and blood sample collection. Researchers will gather data on liver fat, fibrosis, diabetes, and cardiovascular risk over time. The main outcome is the presence of liver steatosis, with secondary outcomes including fibrosis prevalence and links to metabolic and cardiovascular factors. The study period extends to 2028, allowing for long-term observations.

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