ABSTRACT

The familial occurrence of xanthomata and atheroma were well described before the turn of the last century.1,2 It was also appreciated that both lesions contained substantial deposits of cholesterol.3 The earliest account of FH in which all of the essential elements were present, including the serum cholesterol concentration, was that of Burns in 1920.4 More extensive studies appeared in the 1930s due to the work of Müller5 and Thannhauser.6 These and many later studies indicated a dominant pattern of inheritance, but this was not confirmed until the 1960s when Kachadurian,7 working in the Lebanon

where FH and first-cousin marriages are common, demonstrated a monogenic pattern of inheritance with expression in heterozygotes and an even more severe form of the disease in homozygotes.