Genetic Testing for Autosomal Dominant Hypercholesterolemia

Autosomal Dominant Hypercholesterolemia

December 2008

There are three categories of specific genetic conditions caused by mutations and specific genes that fall under ADH.

First is Familial Hypercholesterolemia (FH). FH is due to mutations in LDLR gene. Second is Familial Defective ApoB-100 (FDB). FDB is due to mutations in APOB gene. Third is the rarer condition Autosomal Dominant Hypercholesterolemia type 3, which is due to gain of function mutations in PCSK9 gene. As a side note, loss of function mutations in PCSK9  leads to hypercholesterolemia. For our purposes today, we will focus on FH and FDB.

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Autosomal Dominant Hypercholesterolemia

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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?