Researchers have discovered a rare gene mutation that results in very low low-density lipoprotein levels (LDL is the “bad” cholesterol).  So far, only two people have been identified who are homozygous for (i.e. have two copies of) the mutated gene.  Both people have LDL levels around 15 mg/dl.   An LDL of less than 100 is considered optimal; over 160 is classified as high.

LDL is considered to be a major contributor to atherosclerosis and thus to heart disease and strokes.  The discovery that a genetic mutation can result in very low LDL levels has triggered a rush by several major drug companies to produce a drug that mimics the effects of the mutation.  At least three drug companies already have drugs in the testing stage.  The drug companies view anti-cholesterol drugs as potential blockbusters.  From the perspective of a drug company, drugs that are taken long-term for chronic conditions are far better profit-generators than drugs that are taken only for a brief period to cure a disease or condition (such as antibiotics, for example).  In addition, LDL-lowering drugs are likely to be expensive.

If/when LDL-lowering drugs are approved, who should take them?  Aside from people with high LDL levels, would people with what are currently considered optimal LDL levels also benefit from taking these drug?

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