Autosomal dominant familial dysbetalipoproteinemia: A pathophysiological framework and practical approach to diagnosis and therapy.
J Clin Lipidol 2017 Jan - Feb;11(1):12-23.e1. Epub 2016 Oct 13.
Department of Chemical Pathology, University of Cape Town Health Science Faculty, Cape Town, South Africa. Electronic address:
Familial dysbetalipoproteinemia (FD) is a genetic disorder of lipoprotein metabolism associated with an increased risk for premature cardiovascular disease. In about 10% of the cases, FD is caused by autosomal dominant mutations in the apolipoprotein E gene (APOE). This review article provides a pathophysiological framework for autosomal dominant FD (ADFD) and discusses diagnostic challenges and therapeutic options. Read More