Familial Hypercholesterolemia

Familial hypercholesterolemia type IIA is an autosomal recessive disease, characterized by high serum low-density lipoprotein (LDL), atherosclerosis, multiple xanthomas, and left ventricular outflow obstruction &. The disease is caused by a defect of the gene encoding for LDL receptors, resulting in absence or abnormal function of the LDL receptor &. The disease is refractory to drug treatment and premature death occurs due to myocardial infarction. Liver transplantation, combined with heart transplantation or coronary by-pass and subsequent cardiac transplantation is the therapy of choice, as first described by Starzl and coworkers in 1984 &, with normalization of LDL and cholesterol serum level, regression of xanthomas and normal coronary angiogram.