Familial hyperlipidemia affects 1 in 250 people with LDL cholesterol often reaching 300 mg/dL, but a BMJ study found LDL levels alone don't predict heart disease in these patients. Lipoprotein(a), fibrinogen, and metabolic health markers matter more. FH patients with low insulin and small waist circumference had barely higher cardiovascular risk than healthy people without the condition.
People who had LDLs above 300 were essentially people with familial hyperlipidemia, genetic condition affects 1 in 250 people where their LDL, they're born with genetically high LDL, which is at least above 190 and often can be as high as 300. Those people did develop heart disease prematurely, but even within that subgroup, 70% of women with FH and 50% of men would not develop premature heart disease. The question is, is there anything in these people's makeup or any sort of blood markers that could predict whether or not they get heart disease or not? The first thing, and the research I did published in BMJ Evidence-Based Medicine with a number of co-authors, we found LDL was not a predictor in people with FH. Their LDL levels were the same. What was a predictor? Lp(a), Lp(a), fibrinogen, and then metabolic abnormalities. The ones who had FH and low insulin and low waist circumference as a surrogate for optimal metabolic health, their relative risk of developing heart disease with FH was only very slightly higher than the healthiest person in the normal population without FH. Wow.
