Familial hypercholesterolemia

Familial hypercholesterolemia

Familial hypercholesterolemia is an autosomal dominant disorder and should be suspected when the total cholesterol levels are above 300 mg/dL in adults and above 250 mg/dL in children. Those who are homozygous for the gene have very high cholesterol values and have atherosclerotic disorders very early in life. In addition to tuberous and tendon xanthomas, they have corneal arcus, features of coronary, cerebral or peripheral vascular disease and aortic stenosis. In homozygous variety, low density lipoprotein cholesterol levels may be above 600 mg/dL.