This excerpt is taken from our 3D animation work for a biopharmaceutical company that developed an FDA-approved orphan drug, aimed at treating the rare genetic disease homozygous familial hypercholesterolemia (HoFH).
This video explores the activity within the body of a person affected with HoFH; explaining the normal and abnormal functions of LDL-C.
¹Familial hypercholesterolemia (FH), an autosomal codominant disease, is characterized by high levels of LDL cholesterol and a high incidence of coronary artery disease (CAD). ²Homozygous Familial Hypercholesterolemia, or HoFH, is a rare genetic lipid disorder usually caused by defects in the low-density lipoprotein, or LDL, receptor genes, inherited from both parents, resulting in impaired or total loss of function in the LDL receptor.
references: ¹www.circ.ahajournals.org Article: Coronary Artery Disease in Heterozygous Familial Hypercholesterolemia Patients With the Same LDL Receptor Gene Mutation / J. Ferrières, MD, MSc; J. Lambert, PhD; S. Lussier-Cacan, PhD; J. Davignon, MD, Msc, ²www.aegerion.com