Conséquences métaboliques des malabsorptions lipidiques : apports de l’étude des hypocholestérolémies familiales

Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause intestinal lipid malabsorption. They provide a model to study the consequences of chronic hypocholesterolemia: protection against cardiovascular disease, increase of fatty liver disease and neurovascular complications. The understanding of their physiopathology provided new approaches to treat hypercholesterolemia.