A 46-year old female consults you regarding CV risk because her father had an MI at age 52. She is found to have the following lipid panel: TC 270 mg/dl, LDLC 210 mg/dl, HDLC 40 mg/dl, TG 100 mg/dl. On examination, she has tendinous xanthoma but neither arcus nor xanthelasma. What further evaluation(s) do you recommend?
- Obtain genetic studies to confirm the diagnosis of familial hypercholesterolemia
- Obtain a lipoprotein(a) level
- Screen her first degree relatives for lipid levels
- A & C
- B & C
Correct Answer: E
Rationale: This patient definitely has familial hypercholesterolemia using both the Dutch Lipid Clinic and Simon Broome criteria, so genetic testing is not required. The SAFEHEART Registry found that lipoprotein(a) levels substantially affect CV risk in FH patients, so this test should be ordered. It might help the decision to add a PCSK9 inhibitor to high-dose statin therapy. Importantly, her first degree relatives should be screened for lipid abnormalities since early treatment provides the greatest benefit.
- Alonso R et al. Lipoprotein(a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation. J Am Coll Cardiol. 2014;63:1982-9
- Singh S, Bittner V. Familial hypercholesterolemia—epidemiology, diagnosis, and screening. Curr Atheroscler Rep 2015:17:483
- Nordestgaard BG et al. Familial hypercholesterolemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013;34:3478-90
- Marks D et al. review on the diagnosis, natural history, and treatment of familial hypercholesterolemia. Atherosclerosis 2003;168:1-14
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