Special Report: A Recap of the Inaugural Donald S. Fredrickson Conference on Familial Lipoprotein Disorders

The inaugural Donald Fredrickson Conference on Familial Lipoprotein Disorders was convened on Sunday, April 29, 2018 at the end of the National Lipid Association Annual Scientific Sessions in Las Vegas. The meeting was chaired by Dr. Virgil Brown.

Dr. Donald Fredrickson was an esteemed lipid specialist who may be best known by some for the Fredrickson classification of lipid disorders, but who also made many other important contributions to the field. He was able to accomplish what is now described as translational research that spanned from basic science investigation to careful studies of lipid and lipoprotein physiology, which were applied to clinical evaluation and management of lipid disorders. He was the first to describe Tangier disease and cholesterol ester storage disease (CESD). He trained many individuals who went on to become esteemed leaders in the field of lipoprotein metabolism, including Dr. Virgil Brown. He served in many important positions that included the director of the NHLBI of the National Institutes of Health (NIH) in 1968, director of the NIH in 1974, and director of the Howard Hughes Foundation in 1981. This symposium was named in honor of Dr. Fredrickson in recognition of his tremendous contributions and lasting legacy in the field of lipoprotein metabolism.

The purpose of the 3.5-hour conference was to provide an overview of the clinical features, diagnostic evaluation, and management of several familial lipoprotein disorders. The conference started with an illuminating keynote address by Dr. Ernst Schaefer on the use of genetic testing to improve management of patients with rare genetic disorders of lipid and lipoprotein metabolism. The rest of the conference consisted of sequential presentations of selected cases followed by short presentations by expert discussants in conjunction with questions and comments from the audience. A total of six cases were presented, which provided an in-depth discussion of cerebrotendinoous xanthomatosis (CTX), familial chylomicronemia syndrome (2 cases with different genetic causes), sitosterolemia, lysosomal acid lipase deficiency (LALD, aka CESD), and severe hypobetalipoproteinemia. Detailed information was presented in relation to each case that elucidated the presenting symptoms and signs of these disorders, the genetic and pathophysiologic basis of the disease, and strategies for treatment and monitoring. The agenda for the meeting is available for review at lipid.org/fredricksonconference.

Those who attended the conference received a lively and informative series of presentations on rare disorders of lipoprotein metabolism. For those of you who missed out on this excellent conference, it is hoped that the Donald Fredrickson Conference on Familial Lipoprotein Disorders will become an annual event that you will have the opportunity to attend next year. You shouldn’t miss it!

Disclosure statement: Dr. Duell has received honoraria from Akcea, Amgen, Esperion, Kastle, Regeneron, Regenxbio and Sanofi in addition to an institutional grant from Regenexbio. Dr. Brown has received honoraria from Amgen and Esperion and owns stock in Ionis and Akcea.