Abstract

BackgroundThe scarcity of familial hypercholesterolemia (FH) cases reported in Saudi Arabia might be indicative of a lack of awareness of this common genetic disease among physicians.ObjectiveTo assess physicians’ awareness, practice, and knowledge of FH in Saudi Arabia.MethodsThis is a cross-sectional study conducted among physicians at four tertiary hospitals in Riyadh, Saudi Arabia between March 2016 and May 2016 using a self-administered questionnaire.ResultsA total of 294 physicians completed the survey (response rate 90.1%). Overall, 92.9% of the participants have poor knowledge of FH while only 7.1% have acceptable knowledge. The majority (68.7%) of physicians rated their familiarity with FH as average or above average, and these had higher mean knowledge scores than participants with self-reported below average familiarity (mean 3.4 versus 2.6) (P < 0.001). Consultant physicians were 4.2 times more likely to be familiar with FH than residents or registrars (OR = 4.2, 95% CI = 1.9–9.1, P < 0.001). Physicians who currently managed FH patients had higher mean knowledge scores compared to those without FH patients in their care (3.5 versus 2.9) (P = 0.006). In addition, there were statistically significant differences between physicians’ mean knowledge scores and their ages, levels of training, and years in practice. Moreover, a substantial deficit was identified in the awareness of various clinical algorithms to diagnose patients with FH, cascade screening, specialist lipid services, and the existence of statin alternatives, such as proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors.ConclusionA substantial deficit was found in the awareness, knowledge, practice, and detection of FH among physicians in Saudi Arabia. Extensive educational programs are required to raise physician awareness and implement best practices; only then can the impact of these interventions on FH management and patient outcome be assessed.

Highlights

  • Familial hypercholesterolemia (FH) is a preventable cause of premature coronary artery disease (CAD)

  • Consultant physicians were 4.2 times more likely to be familiar with FH than residents or registrars (OR = 4.2, 95% CI = 1.9–9.1, P < 0.001)

  • A substantial deficit was identified in the awareness of various clinical algorithms to diagnose patients with FH, cascade screening, specialist lipid services, and the existence of statin alternatives, such as proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors

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Summary

Introduction

Familial hypercholesterolemia (FH) is a preventable cause of premature coronary artery disease (CAD). Several tools are available to diagnose adult patients with FH, such as the Make Early Diagnosis to Prevent Early Death [3], Simon Broome [4], and Dutch Lipid Clinic Network (DLCN) criteria [5] These can all help to detect FH cases, the DLCN criteria have been widely used due to their higher sensitivity [6, 7]. In patients receiving a clinical diagnosis of possible FH based on the molecular genetic analysis, the Simon Broome criteria resulted in a high sensitivity of 90.4% and Dutch Lipid Clinic Network criteria of 99.3% with correspondingly lower mutation detection rates of 38.5% and 34.3%, respectively. The scarcity of familial hypercholesterolemia (FH) cases reported in Saudi Arabia might be indicative of a lack of awareness of this common genetic disease among physicians

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