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Identifying Coronary Artery Calcification on Non-gated Computed Tomography Scans
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A 72-Year-Old Patient with Longstanding, Untreated Familial Hypercholesterolemia but no Coronary Artery

Kipp W Johnson1, Joel T Dudley2, Jason R Bobe3

  • 1Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, New York, N.Y., USA.

Cureus
|June 12, 2018
PubMed

Insights

Familial hypercholesterolemia (FH) patients typically show significant coronary artery calcification (CAC). This case study highlights a 72-year-old man with FH who surprisingly had no significant CAC, challenging typical disease progression expectations.

Area of Science:

  • Cardiovascular Medicine
  • Clinical Genetics
  • Radiology

Background:

  • Familial hypercholesterolemia (FH) is an inherited disorder causing high LDL-C levels.
  • Elevated LDL-C accelerates atherosclerosis and cardiovascular disease (CVD).
  • Coronary artery calcification (CAC) quantifies atherosclerosis progression.

Observation:

  • A 72-year-old man with diagnosed FH and hypercholesterolemia was evaluated.
  • The patient consistently presented with negative results for significant CAC.
  • Imaging methods included electron beam computed tomography (EBCT), MSCT, and CTCA.

Findings:

  • Despite known FH and hypercholesterolemia, the patient exhibited no substantial CAC.
  • This finding contrasts with the expected severe atherosclerosis in FH patients.
  • The absence of CAC suggests potential variations in FH phenotype or progression.

Implications:

  • This case may prompt re-evaluation of CAC as a universal marker for atherosclerosis in all FH patients.
  • Further research is needed to understand factors influencing CAC development in FH.
  • Clinical management of FH may require personalized risk assessment beyond standard CAC screening.

Keywords:
cardiovascular diseasecoronary artery calcificationfamilial hypercholesterolemiagenetic resiliencehigh cholesterolincomplete penetranceldlr mutationpositive outlierresilience

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