Donna and Darren have three children. Darren’s father has hypercholesterolemia, which is transmitted in an autosomal dominant pattern. Darren gets his cholesterol levels checked frequently, and they have remained within normal limits; however, two of Donna and Darren’s three children have high plasma levels of total and LDL cholesterol. Darren doesn’t understand why his children are affected when it is clear that he is healthy.
Do you see any risk factors or inheritance patterns (include family members in your response)?
What could explain why Darren is unaffected but two of his children are affected?
What are treatments for familial hypercholesterolemia?
When would children be treated?