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Genetic testing for a patient with suspected familial hypercholesterolaemia
  1. Venugopal Mudgundi1,
  2. Geoffrey Williams2,
  3. Katherine Manou3,
  4. Robert Block4
  1. 1Department of Public Health Sciences, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA
  2. 2Department of Medicine, University of Rochester, Rochester, USA
  3. 3Department of Public Health Sciences, University of Rochester Specialty Pharmacy, Rochester, USA
  4. 4Department of Cardiology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA
  1. Correspondence to Dr Venugopal Mudgundi, Venugopal_Mudgundi{at}


Familial hypercholesterolaemia (FH) is a genetic condition that results in elevated low-density lipoprotein (LDL) cholesterol (LDL-C) levels with consequent increased risk for premature cardiovascular disease events. Although it is considered an autosomal-dominant genetic condition, the underlying genetic causes of FH can be complex. Currently most guidelines rely on clinical criteria to diagnose FH. But this approach has some pitfalls. We present a patient who was not formally diagnosed with FH using commonly used and well-accepted clinical criteria but via genetic testing was found to have a mutation for this disorder. This case brings to fore the challenges clinicians face in diagnosing and managing such unusual cases optimally. Through this case report, we hope to stimulate a debate among clinicians as well as other stakeholders regarding the need to develop more efficient ways of selecting patients for genetic testing in response to elevated LDL levels.

  • ischaemic heart disease
  • genetic screening / counselling
  • cardiovascular medicine

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  • Contributors RB and VM: had the opportunity to review the case and initiated writing this case study, both of them contributed specifics of this case from a clinical stand-point and its management. GW: overviewed the manuscript and added his expert views on role of motivation in decision making in the case regarding going ahead with genetic testing. KM: was closely involved in the management of this case as a pharmacy specialist and contributed on aspects related to pharmacy and insurance approval of drugs as well as on genetic counseling. All authors edited and reviewed the final manuscript.

  • 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.

  • Patient consent Obtained.

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