Abstract

Familial Hypercholesterolemia (FH) is often considered to be a serious condition, causing Coronary Heart Disease (CHD) and stroke. It is generally accepted that the main cause of CHD and stroke among these people is their high cholesterol levels. However, there are too many contradictions to the theory affirming there is a direct causality between high cholesterol and Cardiovascular Disease (CVD) in these people. For instance, among individuals with FH there is no significant association between cholesterol levels and the severity of CVD. In addition, the life expectancy of individuals with FH is close to that of the population without FH. Finally, no controlled cholesterol-lowering trial in people with FH has demonstrated any significant benefit. On the other hand, studies suggest that procoagulant factors might be a critical risk factor in FH, as in patients without FH. For instance, FH individuals with CVD have high lipoprotein (a), high factor VIII and/or high fibrinogen (whereas their cholesterol does not differ) compared to those without CVD. Thus, many studies suggest that high cholesterol cannot be the cause of CVD mortality among individuals with FH. Some of them have inherited critical risk factors other than a high cholesterol. This review shows that inherited procoagulation factors may be one of the common causes of CVD in FH, not high cholesterol.

Keywords:Familial hypercholesterolemia; Cholesterol; Coagulation; Coronary heart disease; Cardiovascular disease; Lipoprotein (a); Fibrinogen; Factor VIII