Two genetic disorders resulting in elevated cholesterol levels will be discussed.
Familial hypercholesterolemia is a very common genetic disorder, with around 1 in 250 individuals in the United States having a form of the disease. Familial hypercholesterolemia results in extremely high LDL levels. These patients are more likely to have early-onset atherosclerosis. In certain forms of the disease, patients can manifest atherosclerotic disease in childhood and die before age 20.
The pathogenesis of this disease is that there are genetic defects in the gene for the LDL receptors. LDL receptors normally reside on the outside of cells and their function is to remove LDL from the plasma and take it into the cell. In patients with defective LDL receptors, the cholesterol remains in the plasma. These patients require aggressive lipid-lowering therapy. Cholesterol screening begins at two years of age in patients who have first-degree relatives with familial hypercholesterolemia.
Familial hypertriglyceridemia is a genetic disorder in which triglyceride levels are found to be 200-500 mg/dL. Patients with this condition may also have increased LDL cholesterol and have low HDL cholesterol. Pancreatitis is a concern in patients with familial hypertriglyceridemia.
