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
High-Yield Explanation
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.