Publication . Chora, Joana Rita; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda
Familial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism,
with a heterozygous frequency of 1/250e1/500 in most of the European countries. Clinically FH is
characterized by elevated concentrations of plasma cholesterol that accumulates in arteries and
tendons from birth leading to premature coronary heart disease (pCHD). (...)
