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Case of homozygous familial hypercholesterolaemia with premature coronary artery disease
  1. Gayatri Suresh Kumar1,
  2. Mohammad F Mathbout2,
  3. Ibrahim Fahsah3 and
  4. Shahab Ghafghazi2
  1. 1Internal Medicine, University of Louisville, Louisville, Kentucky, USA
  2. 2Cardiovascular Medicine, University of Louisville, Louisville, Kentucky, USA
  3. 3Cardiology, Norton Healthcare, Louisville, Kentucky, USA
  1. Correspondence to Dr Gayatri Suresh Kumar; g0sure02{at}louisville.edu

Abstract

Familial hypercholesterolaemia is a genetic disorder secondary to mutation of one or more of the genes critical for low-density lipoprotein cholesterol (LDL-C) metabolism; these mutation(s) cause highly elevated serum LDL-C, significantly increasing the risk of early cardiovascular events and mortality. Homozygous familial hypercholesterolaemia (HoFH) is rare and often leads to accelerated coronary atherosclerosis presenting within the first two decades of life. We report a case of a 14-year-old boy who presented after surviving a ventricular fibrillation cardiac arrest. His highly elevated LDL-C level prompted further workup and led to a diagnosis of HoFH. The treatment included medical therapy and coronary artery bypass grafting. The patient also required referral for lipid apheresis to meet goal LDL-C level, and an automated implantable cardioverter defibrillator for secondary prevention of sudden cardiac death. HoFH, if left untreated, can have devastating consequences Therefore, timely diagnosis initiating appropriate therapy is important.

  • cardiovascular medicine
  • interventional cardiology
  • lipid disorders

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Footnotes

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  • Contributors Dr GSK and Dr MFM were involved in the drafting of this manuscript. Dr MFM and Dr IF were involved in the care of the patient described in our case report. Dr SG, mentor of both Dr GSK and Dr MFM, was involved in the revision of our case report.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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