How to tell if you have familial high cholesterol

Familial hypercholesterolemia is determined on the basis of serum total cholesterol levels, symptoms, and family history. Familial hypercholesterolemia is an autosomal dominant disorder whose main pathogenesis is the absence or deficiency of low-density lipoprotein cholesterol (LDL-C) receptors on cell membranes, resulting in abnormal metabolism of low-density lipoprotein (LDL). Clinical manifestations include markedly elevated serum LDL levels, multiple yellow tumors of the skin and early onset coronary artery disease. Serum total cholesterol is often >8.5 mmol/L in patients with heterozygous familial hypercholesterolemia and >13.5 mmol/L in patients with pure familial hypercholesterolemia. Patients with familial hypercholesterolemia should go to the hospital and be treated under medical supervision.