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Genetic Testing for Autosomal Dominant Hypercholesterolemia



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Summary

Slide 23

December 2008

To summarize what has been discussed today, ADH is a common genetic disease with an incidence of approximately 1 in 500 worldwide.  ADH is highly under-diagnosed for several reasons, including that classical signs may not appear until later in life and criteria and cut points for hypercholesterolemia are variable. The definitive diagnosis of the genetic disease FH or FDB is important because other causes, including environmental causes, of hypercholesterolemia can be ruled out.  Early and potentially more aggressive treatment can be instituted and may be more likely to adhered to, and at-risk family members can be ruled-in or ruled-out as having the disease. Finally, again because of the variability in clinical presentation and diagnostic criteria, genetic testing provides for a definitive diagnosis of a genetic disease.

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