Diagnosis of Familial Hypercholesterolemia

Diagnosis of Familial Hypercholesterolemia

  • Familial hypercholesterolemia is a highly atherogenic disorder.
  • The risk of CHD is increased 10- to 20-fold.
  • Phenotype is highly variable.
  • Genetic testing may be beneficial in some patients.
  • Clinical diagnosis of FH is based on:
    • Personal and family history of hypercholesterolemia, xanthomas and early CAD.
    • Genetic screening may be used, but a negative test does not exclude FH.
  • Early aggressive LDL-lowering treatment is needed.
  • Patients with FH can potentially live a full life.
  • It is fabulous to have 7(8) classes of drugs (+apheresis).

Dr. P Barton Duell

Dr. P Barton Duell is a Professor of Medicine, Division of Cardiovascular Medicine, School of Medicine. He currently serves as the director of OHSU's Metabolic Disorders Clinic. He received his medical degree from OHSU in 1983, and completed his medicine residency at OHSU and the University of Chicago. He completed his metabolism, endocrinology and nutrition fellowship at the University of Washington in Seattle.

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