Standards of Evidence and Mechanistic Inference in Autosomal Recessive Hypercholesterolemia
This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.
The study of orphan diseases, defined by the US Food and Drug Administration as any condition that affects <200 000 people nationwide, has been crucial not only in our understanding of disease pathophysiology and gene discovery but also in therapeutic development.1 Individuals with orphan conditions have played an active role not only in improving care of their own condition but often in improving the care of individuals with more common conditions by participating in clinical trials, donating biospecimens, and even through advocacy. Nowhere has this been more evident recently than in the field of lipidology, where the study of orphan conditions such as homozygous familial hypercholesterolemia, a rare condition generally caused by biallelic mutations in LDLR, or lysosomal acid lipase deficiency2 has led to the Food and Drug Administration approval of specifically targeted therapies (lomitapide, mipomersen and the PCSK9 inhibitor evolocumab for the former, and sebelipase alfa for the latter).3
See accompanying article on page 1647
Autosomal recessive hypercholesterolemia (ARH) is another such orphan disease.4 Fellin et al …