Familial Hypercholesterolemia: The Key to Solving the Cholesterol Myth

Familial hypercholesterolemia (FH) is the key to the argument that cholesterol is the cause of coronary heart disease (CHD). However, mean cholesterol levels do not differ between individuals with heterozygous FH who develop CHD and those who do not develop CHD. When we consider homozygous FH specifically, similar cholesterol levels in heterozygous type cannot be explained by the ceiling effect. Instead, an abnormality of the hemostatic system in FH might explain the high CHD incidence. The most recognized low density lipoprotein (LDL) apheresis intervention study performed in Japan has a number of limitations and the results must be interpreted with care. The association between high cholesterol levels and CHD mortality in Japanese men is most likely due to the presence of individuals with FH in very high cholesterol groups. The association between CHD mortality and cholesterol levels decreases with age: this phenomenon can be explained by the decreasing proportion of FH subjects, some of whom die prematurely from CHD, as the cohort ages. Based on the historical fact that individuals with FH in the Netherlands lived longer than the general population before 1900 when infection was the primary cause of death, those with FH may well survive future major pandemics with unknown infectious agents.