Grand Rounds: Familial Hypercholesterolemia

Mayo Clinic cardiologist, Iftikhar J. Kullo, M.D., discusses familial hypercholesterolemia. For more information on familial hypercholesterolemia or to request an appointment, visit here.

Familial hypercholesterolemia is a common disorder that affects the way the body processes cholesterol. Familial hypercholesterolemia is also associated with a high risk of adverse cardiovascular events. Peoplewith familial hypercholesterolemia often present with atherosclerotic cardiovascular disease (ASCVD), xanthoma, arcus senilis and aortic stenosis. Once a diagnosis has been established, additional testing including echocardiography, stress testing and lipoprotein (a) levels should be considered. Cascade screening also is important to identify additional family members who may carry this gene, as early treatment can be beneficial.

Treatment for familial hypercholesterolemia includes drug therapy, and lifestyle modifications such as diet, physical activity and smoking cessation.

Video content outline:

  • Introduction
  • Historical perspective and genetic basis (0:58)
  • Presentation, clinical criteria and ASCVD risk (6:36)
  • Cascade screening (12:30)
  • Drug therapy (15:37)
  • Mayo Clinic CV Genomics Clinic (19:24)
  • Conclusion (20:28)

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