A patient was diagnosed with an isolated increase in LDL. His father and brother had the same disease with increased cholesterol. The likely diagnosis is
Correct Answer: LDL receptor mutation
Description: LDL receptor mutation
Isolated increase in LDL with positive family history suggests the diagnosis of familial hypercholesterolemia.
Familial hypercholesterolemia (type IIa) is due to deficiency of functional LDL receptors as a result of different types of mutations.
Category:
Biochemistry
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