Genetic Testing for Autosomal Dominant Hypercholesterolemia

Summary

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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Jump to section:

• Introduction
• Autosomal Dominant Hypercholesterolemia
• Autosomal Dominant Hypercholesterolemia
• Autosomal Dominant Hypercholesterolemia
• Familial Hypercholesterolemia
• FH-Primary Defect in LDLR
• LDLR Gene
• LDLR Gene
• Familial Defective ApoB-100
• How is ADH Diagnosed?
• Impact of Failure to Diagnose
• Why is Genetic Testing for ADH Useful?
• Statin Treatment-How Early?
• ADH-Genetic Testing Methodology
• Familial/Autosomal Dominant Hypercholesterolemia Diagnostic Algorithm
• APOB-Targeted Genotyping Performed First
• APOB Mutation-Positive
• APOB Mutation-Negative
• LDLR Sequence Mutation-Positive
• LDLR Sequence Mutation-Negative
• LDLR Large Del/Dup Mutation-Positive
• LDLR Large Del/Dup Mutation-Negative
• Summary
• Conclusion
• Questions?