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Quiz on Familial Hypercholesterolemia Genetics: Can You Crack the Cholesterol Code?

Dear doctors, participate in this fun and exciting quiz on familial hypercholesterolemia. Familial Hypercholesterolemia is a genetic disorder causing high cholesterol levels, increasing cardiovascular disease risk. Understanding the genetic mutations involved, such as LDLR, APOB, and PCSK9, helps tailor personalized treatment strategies and improve the management of this condition. Participate now.

1. Which gene mutation is most commonly associated with Familial Hypercholesterolemia?

2. In FH, which of the following laboratory findings is typically elevated?

3. Which FH mutation is known to increase LDL receptor activity and is usually associated with a milder phenotype?

4. What is the primary treatment approach for heterozygous FH?

5. Which of the following is a key diagnostic criterion for Familial Hypercholesterolemia according to the Simon Broome criteria?

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