A 55-year-old man experienced a myocardial infarction (MI) 4 months ago. His current low-density lipoprotein cholesterol (LDL-C) level is 170 mg/dL, and his total cholesterol is 220 mg/dL. He is currently on a statin and colesevelam. His family history includes a brother with high cholesterol (untreated LDL-C level is 300 mg/dL), and his father died of an MI at age 52. He is married and has one child, who is 11 years old.

Which family members should be screened for familial hypercholesterolemia (FH)?

  1. His wife and child
  2. His brother, child, and all other first-degree relatives
  3. His first-degree relatives older than 18 years
  4. N/A; there is no indication this patient has FH

Correct Answer:  B

Rationale:

In adults, strongly consider a diagnosis of FH in patients aged 30 years or older with an LDL-C level of 250 mg/dL or greater (LDL-C ≥ 220 mg/dL for patients aged 20 to 29 years). Obtain fasting lipid profile or non-high-density lipoprotein cholesterol for all children aged 9 to 11 years. In children, an LDL-C level higher than 190 mg/dL, or higher than 160 mg/dL with a positive family history, is consistent with FH. Once an FH patient is identified, it is important to use cascade screening to identify other family members who may have FH. First- and second-degree (and if possible third-degree) biological relatives should be screened. Cascade screening helps identify younger FH patients and prevents coronary artery disease.

References:

  1. Daniels SR, et al. J Clin Lipidol. 2011;5:S30-7
  2. Goldberg AC, et al. J Clin Lipidol. 2011;5:S1-8
  3. Hopkins PN, et al. J Clin Lipidol. 2011;5:S9-17

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