Abstract
Disorders of lipoprotein and lipid metabolism—dyslipidemias—can be classified based on the primary biochemical disturbance, such as high or low plasma levels of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglyceride, or some combination of these. Several monogenic dyslipidemias, such as heterozygous familial hypercholesterolemia, are now defined at the molecular genetic level. To prevent serious complications, particularly premature cardiovascular disease, in monogenic dyslipidemias it is important to screen subjects at risk. Diagnosis may require clinical, biochemical and genomic DNA assessment. Treatment includes diet, exercise and lipid-lowering medications.
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More From: Emery and Rimoin's Principles and Practice of Medical Genetics
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