Barriers to the identification of familial hypercholesterolemia among primary care providers

John Zimmerman, Daniel Duprez, Patricia Mc Carthy Veach, Heather A. Zierhut

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


Familial hypercholesterolemia (FH) is severely underdiagnosed in the USA. Primary care providers are well-positioned to identify FH cases; however, universal FH screening is not routinely implemented in practice. The aim of the present study was to identify perceived barriers to FH screening among primary care physicians in Minnesota. A questionnaire assessed FH screening practices, knowledge, and perceived barriers to FH screening. The questionnaire, sent electronically to internal and family medicine physicians in Minnesota (N = 1932) yielded a conservative estimated response rate of 9% (N = 173). Although 92% of participants reported themselves responsible for identifying individuals with FH, 30% did not routinely perform screening in practice. Only 50% of participants were able to correctly identify the risk of FH to first-degree relatives of individuals with FH. Challenges incorporating lipid and family history data was the most frequently endorsed barrier to FH screening (34%). A majority of participants endorsed a clinical decision support system that flags individuals at high risk for FH (62%) and an algorithm with cholesterol levels and lipid disorders (56%) as means of facilitating FH screening. Although the generalizability of the findings is unknown, the results underscore the need for increased provider education regarding FH and suggest an FH screening strategy incorporating a clinical decision support system, screening algorithm, and support from other healthcare providers.

Original languageEnglish (US)
Pages (from-to)229-236
Number of pages8
JournalJournal of Community Genetics
Issue number2
StatePublished - Apr 4 2019

Bibliographical note

Publisher Copyright:
© 2018, Springer-Verlag GmbH Germany, part of Springer Nature.


  • Cholesterol screening
  • Familial hypercholesterolemia
  • Heart disease
  • Hypercholesterolemia
  • Provider education
  • Universal screening


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