National Lipid Association
National Lipid Association
July 02, 2015
2 min read

Diagnostic tools for familial hypercholesterolemia underused in many US lipid clinics

You've successfully added to your alerts. You will receive an email when new content is published.

Click Here to Manage Email Alerts

We were unable to process your request. Please try again later. If you continue to have this issue please contact

CHICAGO — Most lipid clinics participating in the CASCADE FH registry did not use any of the existing diagnostic tools for identification of patients with familial hypercholesterolemia, researchers reported at the National Lipid Association Scientific Sessions.

Zahid Ahmad, MD, and colleagues evaluated data on 876 adults with familial hypercholesterolemia (FH) collected from 11 lipid clinics participating in the CASCADE FH database. Patients were categorized into five groups based on FH diagnosis: clinical diagnosis; diagnosis using MEDPED criteria; diagnosis using Simon-Broome criteria; diagnosis using Dutch Lipid Clinic Network criteria; or diagnosis via other means.

Overall, the cohort was 57% female, 78% white and the mean age was 53 years. The mean age at FH diagnosis was 43 years.

The breakdown of FH diagnosis was as follows:

  • 64% of patients received a clinical diagnosis;
  • 19% of patients received a diagnosis using multiple diagnostic criteria;
  • 11% of patients received a diagnosis using MEDPED criteria;
  • 4% of patients received a diagnosis using Simon-Broome criteria; and
  • 1% of patients received a diagnosis using Dutch Lipid Clinic Network criteria.

Patients who were diagnosed with FH via established criteria were younger (mean age, 47 years vs. 55 years; P < .001), had a younger age at diagnosis (mean age, 37 years vs. 45 years; P < .001), were less likely to have prior CAD (24% vs. 41%; P < .001) and had a higher LDL level prior to treatment (278 mg/dL vs. 254 mg/dL; P < .05) compared with patients who received a clinical diagnosis.

The researchers acknowledged that their findings may be attributable to a lack of nationwide consensus for FH diagnostic criteria and noted that consistent criteria could yield improved outcomes.

“Unfortunately, it looks like most clinicians in the United States are not using any one particular criteria to diagnose FH,” Ahmad, from the University of Texas Southwestern Medical Center in Dallas, told Cardiology Today. “If we don’t have standardized diagnostic methods, if people are just diagnosing as they wish, then we are probably missing a lot of patients. We may also be overdiagnosing, but since in the United States less than 10% of FH patients are actually diagnosed, we are probably missing most of them.” – by Adam Taliercio


Ahmad Z, et al. Abstract #155. Presented at: National Lipid Association Scientific Sessions; June 11-14, 2015; Chicago.

Disclosure: Ahmad reports serving as an educational speaker for Genzyme and Sanofi-Aventis, and on an advisory board for Genzyme.