Patients with familial hypercholesterolemia
A) Possess depressed levels of plasma cholesterol
B) Have missing or defective LDL receptors
C) Are homozygous or heterozygous for a nonfunctional LDL receptor gene
D) Have very high levels of serum cholesterol
E) B, C, and D are correct

Question

Quizplus · Accepted Answer

Familial hypercholesterolemia is characterized by missing or defective LDL receptors, which can be due to being homozygous or heterozygous for a nonfunctional LDL receptor gene, leading to very high levels of serum cholesterol.

Patients with Familial Hypercholesterolemia