Case Studv 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 low-density lipoprotein (LDL) cholesterol. Darren does not understand why his children are affected when it is clear that he is healthy Draw the family pedigree for this family What could explain why Darren is unaffected but two of his children are affected? Darren return from a meeting with the genetic counselor but still does not understand what she told him. How could you help Darren understand what is going on with his family?

Hypercholesterolemia is caused by higher levels of low-density lipoprotein (LDL) cholesterol, it makes more difficult the blood flow through the organism due to the abnormal deposition of cholesterol in the walls of arteries. It is a condition that increases the risk to suffer heart attacks and cardiovascular diseases.

Hypercholesterolemia is a trait inherited in an autosomal dominant pattern, thereby heterozygous individuals suffer from this disease. A mutation in the LDL receptor gene localized in chromosome 19 has been identified as the most common genetic cause of hypercholesterolemia. This gene is responsible for the physiological removal of LDL from the bloodstream.