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.
