Genetic Testing for Autosomal Dominant Hypercholesterolemia

FH-Primary Defect in LDLR

December 2008

As mentioned earlier, mutations in the LDLR gene, which encodes through the Low Density Lipoprotein Receptor (LDLR), are the underlying cause of FH. The LDLR protein is present on the cell surface of most cell types. As the receptor for LDL, LDLR binds LDL and mediates its uptake into cells.  Defects in the receptor result in lower uptake of LDL and increased levels of plasma LDL. The excess LDL is stored in cells and deposited as skin and tendinous xanthomas and atheromas.

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FH-Primary Defect in LDLR

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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?