Genetic Testing for Autosomal Dominant Hypercholesterolemia
Autosomal Dominant Hypercholesterolemia
December 2008
ADH is one of the most common genetic diseases and occurs in all populations with a worldwide frequency estimated to be at 1 in 500 individuals. ADH occurs at a higher frequency in some populations especially populations in South Africa, Lebanon, and French Canada.
As implied by the name, ADH is an autosomal dominant genetic disease meaning that individuals who are affected usually have one affected parent and they may also have affected siblings. They also usually have a family history positive for premature CVD.
First-degree relatives of affected individuals, including offspring, have a 50% chance of having ADH.
Autosomal Dominant Hypercholesterolemia |
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?
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