Severe Hypercholesterolemia in a Patient with Chronic Graft-Versus-Host Disease of the Liver

Familial hypercholesterolemia (FH), known to be as the most important cause of severe hypercholesterolemia, is a genetic disease characterized by elevated LDL-Cholesterol (LDL-C), mainly caused by an autosomal dominant condition due to mutations in the LDLR gene that normally encodes the LDL receptor protein, leading to its decreased function and decreased LDL cholesterol clearance from the blood. This leads to elevated levels of total cholesterol and LDL cholesterol. The severe form occurs in individuals who inherit the gene mutation from both parents, making them genetically homozygous or compound heterozygous leading to tendinous xanthomas (waxy deposits of cholesterol in tendons), xanthelasmas (cholesterol deposits in the eyelids) and corneal arcus (cholesterol deposit around the cornea of the eye) [1-3]. This is also known to be a common cause of premature cardiovascular disease due to atherosclerotic plaque deposition in the coronary arteries, where myocardial infarction was documented as early as 18 months of age in patients with homozygous familial hypercholesterolemia [4].