1. All of the following clinical scenarios respond well to medical therapy with lipid lowering drugs except:

 

    1. A 12 year old boy with eruptive xanthomata and a corneal arcus. His serum is foamy. His serum triglyceride levels are in the order of 1000 mg/dL.
    2. A 23 year old man who has raised LDL levels (300 mg/dL). His elder brother also has the same problem. He presents with rounded elevated swellings on his extensor tendons of the hands.
    3. A 35 year old man whose LDL is 800 mg/dL. He has documented triple vessel disease on coronary angiography. His elder sister and younger brother both died of heart attacks in quick succession.
    4. A 45 year old diabetic who is presenting for a routine evaluation with a triglyceride level of 350 mg/dL and a LDL levels of 180 mg/dL

 

Answer: The answer is (c), which describes a homozygous form of familial hypercholesterolemia. All other scenarios respond well to drug therapy. The first situation is a hyperchylomicronemia, which responds to diet modification alone. The second situation is a heterozygous familial hypercholeterolemia, which responds well to statins. The fourth scenario is diabetic dyslipidemia, which also responds well to statins.