Genetic Testing for Autosomal Dominant Hypercholesterolemia

How is ADH Diagnosed?

December 2008

Now that we have covered some background on FH and FDB, I’d like to discuss how ADH is diagnosed. Elevated cholesterol is an important sign of ADH. The cut points for elevated cholesterol are age-dependent and it is important to note that there are several different cholesterol cut points for establishing ADH. It is also important to note that there is a considerable range in severity of hypercholesterolemia among individuals with ADH.

In addition to hypercholesterolemia other classical clinical signs include skin and tendinous xanthomas. However, many patients will not have classical clinical signs and often times, these signs, including elevated cholesterol, do not appear until later in life.

Individuals with FH oftentimes have a family history of premature CVD and elevated cholesterol. However, not all patients, especially ones with de novo or low penetrant mutations will have a family history. Taking all of this into account, it is apparent that it can sometimes be difficult to properly diagnose ADH. In fact, it is thought that ADH is highly under-diagnosed.

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How is ADH Diagnosed?

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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?