It is known since long that familial hypercholesterolemia is associated with increased risk of cardiovascular disease as a consequence of atherosclerotic plaques in blood vessels. But Its NOT due to high cholesterol levels in blood !!
The cause of such consequences lies in genetics. Genetic aberrations in patients with FH include variations in Prothrombin gene which increases coagulation and clot formation. This ultimately blocks the arteries by forming plaques!
Heart patients with FH also have higher concentrations of Fibrinogen and Factor VIII in their blood in addition to other factors, compared to healthy ones.
People with familial hypercholesterolemia tend to live a longer life than those with low cholesterol levels, suggesting a minor role of high cholesterol in pathogenesis of the disease.
However, cholesterol is still associated with other systemic diseases, though recently LDL has been considered 'good' too!
- Jaskunwar Singh