Epidemiology of hypobetalipoproteinemia in general population (HYPOBETA)

Hypobetalipoproteinemia (HBL) is a lipoprotein metabolism disorder characterized by a permanent low concentration (< 5th percentile according to age and sex) of plasma LDL-cholesterol (LDL-C) or apolipoprotein B (APOB). The HYPOBETA study aims to establish the phenotypic profile of subjects with HBL in the general population in comparison to subjects with normal LDL-C levels. Particularly, the study will seek to compare the prevalence of the following conditions: - glucose homeostasis disorders (prediabetes, diabetes) - liver diseases (steatosis, cirrhosis and hepatocellular carcinoma) - cardiovascular diseases- ophtalmological disorders (cataracts) - neuropsychological disorders (depression, suicide risk, cognitive disorders) - fertility disorders in women Apart from a better characterization of HBL, the HYPOBETA study will give into the potential risks of lipid-lowering therapies (statins, anti-PCSK9), since it will assess the long-term consequences of low LDL levels in a general population cohort.