A patient with familial hypercholesterolemia undergoes a detailed serum lipid and lipoprotein analysis. Studies demonstrate elevated cholesterol in the form of increased LDL without elevation of other lipids. This patient's hyperlipidemia is best classified as which of the following types?
Hyperlipidemia has been subclassified based on the lipid and lipoprotein profiles. Type 2a, which this patient has, can be seen in a hereditary form, known as familial hypercholesterolemia, and also in secondary, acquired forms related to nephritic syndrome and hypehyroidism. The root problem appears to be a deficiency of LDL receptors, which leads to a specific elevation of cholesterol in the form of increased LDL. Heterozygotes for the hereditary form generally develop cardiovascular disease from 30 to 50 years of age. Homozygotes may have cardiovascular disease in childhood. Type 1 is characterized by isolated elevation of chylomicrons. Type 2b is characterized by elevations of both cholesterol and triglycerides in the form of LDL and VLDL. Type 3 is characterized by elevations of triglycerides and cholesterol in the form of chylomicron remnants and IDL.
Type 1
Type 2a
Type 2b
Type 3