Genetic Testing for Autosomal Dominant Hypercholesterolemia

Statin Treatment-How Early?

December 2008

While I’m on the topic of treatment for ADH, I’d like to discuss statin treatment in ADH a little further. Statins are the most common drug used to treat ADH and studies have demonstrated that statins should be given as early as possible in the course of ADH. In fact, atherosclerotic disease begins in childhood and is progressive.  50% of children and 85% of young adults have fatty streaks which are the earliest pathological abnormality in atherosclerosis.

In addition, it has been shown that 45% of 22-year-olds have evidence of atherosclerosis. Studies have been performed on the evaluation of statin treatment in children and adolescents and these studies have supported the short-term safety and efficacy of such treatment. However, studies examining the long-term treatment of statin treatment on children are lacking at this time.

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Statin Treatment-How Early?

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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?