Familial hypercholesterolaemia is a genetically inherited condition that affects the metabolism of lipoproteins, leading to an elevated cholesterol level in the blood. This occurs because the individuals suffering from this disorder lack the necessary low-density lipoprotein receptors in their liver. These receptors play a crucial role in removing surplus cholesterol from the bloodstream. The inheritance pattern of this condition is autosomal dominant.
Elevated cholesterol levels in the blood can hasten the onset of atherosclerosis, a condition characterized by fatty deposits accumulating on the inner linings of the arteries, and coronary artery disease, among other vascular disorders. To manage these conditions, long-term treatment is required, which typically includes the use of lipid-lowering medications such as statins. Additionally, adopting a diet low in cholesterol and following a weight reduction program are recommended.