[Familial hypercholesteremia. Clinico-diagnostic and therapeutic aspects]

A case of familial hypercholesterolaemia detected in a homozygous subject following the investigation of two large families with a high incidence of the disease, is presented. The genetic background of this form is discussed. Reference is made to the difficulty of identifying heterozygotes and homozygotes and the mode of transmission followed in the two families. The results of 45 months' treatment with cholestiramine and clofibrate and a dietary regimen are described.