Genetic Testing for Autosomal Dominant Hypercholesterolemia

Why is Genetic Testing for ADH Useful?

December 2008

This is where genetic testing comes into play so now I would like to discuss why genetic testing is useful for ADH.

First, it provides for a definitive diagnosis of a genetic disease and allows for the opportunity to rule-out other causes of high cholesterol, including environmental causes.

Second, once a mutation is identified in the family, other at-risk family members can be tested to determine if they have ADH.

Third, once a mutation is identified in an individual or family, genetic counseling can take place.

Fourth, genetic identification of ADH in an individual can lead to more optimal treatment of that individual including instituting proper and potentially aggressive treatment at an early stage of the disease. Furthermore with the knowledge of being positive for a genetic disease, the drug regimen might be more strictly adhered to by the patient. Studies have shown that when individuals realize they have a genetic rather than an environmental cause of high cholesterol, they tend to be more adherent to long-term statin therapy. Taken together, early treatment and better adherence lead to improved outcomes for these patients.

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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?