Homozygous Familial Hypercholesterolemia (HoFH)
Familial hypercholesterolemia (FH), an autosomal codominant disease, is characterized by high levels of LDL cholesterol and a high incidence of coronary artery disease (CAD).
Homozygous 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: www.circ.ahajournals.org Article: Coronary Artery Disease in Heterozygous Familial Hypercholesterolemia Patients With the Same LDL Receptor Gene Mutation / J. Ferrieres, MD, MSc; J. Lambert, PhD; S. Lussier-Cacan, PhD; J. Davignon, MD, Msc, aegerion.com
Senior Director Business Development & US Marketing, Rare Disease, Aegerion Pharmaceuticals, Massachusetts, USA
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