Which of the following conditions is due to membrane receptor defect?: (A) Beta thalassemia, (B) Familial hypercholesterolemia, (C) HSP, (D) Sickle cell disease
Answer is B. Ans: B (Familial hypercholesterolemia) Ref: Robbins Pathologic Basis of Disease, 8th editionExplanation:Familial hypercholesterolemiaPathology: Mutations in the LDLR gene that encodes the LDL receptor protein, which normally removes LDL from the circulation, or apolipoprotein B (Apob), which is the part of LDL that hinds with the receptor. (See Table 9)