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