The current study is the first to elucidate significant knowledge gaps in FH care among Dutch GPs, despite their self-perceived high familiarity with this disorder. While 62.4% of the GPs rated their familiarity with FH as above average and 91.4% reported being familiar with the FH treatment and referral guidelines, more than half of the GPs answered fewer than half of the 8 knowledge-related questions correct. The survey performance of the Dutch GPs was comparable to that of the UK primary care physicians with regard to their responses to the knowledge-related questions, although their self-rated familiarity with FH was higher than that in the other countries. Collectively, these findings underscore the need for further FH education and awareness programmes in primary care in the Netherlands in order to enhance FH detection and ensure appropriate treatment of FH patients.

The current study sheds light on the suboptimal knowledge of FH among Dutch GPs. These findings align with previous questionnaire studies conducted in the countries participating in the ‘Ten Countries Study’, as well as the US [13, 14, 18, 19]. A consistent pattern observed in these studies was that the primary care physicians perceive themselves as the most appropriate healthcare providers for managing FH, despite their suboptimal awareness of the guidelines and their limited knowledge of its prevalence and the diagnostic characteristics. Only a small proportion of GPs in the current study correctly identified the FH prevalence (19.5%) and heritability (55.7%), which are key factors for recognising potential FH cases. Most GPs either underestimated the true prevalence of FH, perceiving it to be less common than it actually is, or indicated uncertainty regarding the prevalence. In addition, only 13.6% correctly identified the CVD risk associated with FH, while the vast majority (53.4%) underestimated this risk. Moreover, GPs perceived the threshold for premature CVD onset to be 4 years earlier for women and 3 years earlier for men compared with the defined age thresholds outlined in the guidelines, although this difference in perception may not necessarily translate into a significant impact on clinical outcomes or management strategies. Nonetheless, the limited understanding of FH prevalence and heritability and the associated CVD risk poses a significant obstacle to effective FH screening and can further contribute to the problem of FH underdiagnosis and undertreatment [4]. These findings emphasise the necessity of increased awareness among GPs to ensure accurate recognition of FH cases.

Guidelines have recommended that early identification and management of FH patients take place in a primary care setting, as primary care plays a critical role in cascade screening and achievement of long-term treatment adherence [1, 20]. Indeed, most GPs acknowledged their suitability as healthcare provider to detect FH and were open to interventions that improve FH identification, including interpretative comments accompanying laboratory results to alert them to the likelihood of FH. Moreover, most GPs (~70%) expressed their intentions to screen lipid profiles in close relatives once an FH patient was identified. This holds substantial importance, as cascade screening has been established as a highly cost-effective mean of identifying new cases of FH [21]. Nonetheless, the findings revealed a disparity between the self-perceived familiarity and the actual knowledge of FH among Dutch GPs.

Therefore, it is imperative to develop strategies that address these knowledge gaps and enhance FH awareness among GPs. These might include a more pronounced integration of FH education into GP training curricula, dissemination of FH-related information through frequently attended GP conferences and webinars, and enhanced collaboration with lipid specialists. Focusing on GPs in the early stages of their career may especially be effective, considering that GPs with more professional experience achieved significantly higher knowledge scores, possibly due to exposure these more experienced GPs had to the nationwide cascade screening programme, which was discontinued in 2013. For GPs less experienced in FH management, more referrals to specialised lipid clinics and increased interaction with experts are essential until adequate knowledge is acquired.

Furthermore, the issue of suboptimal understanding of FH in primary care extends beyond the borders of the Netherlands and rather encompasses an international challenge. Therefore, exploring international collaboration to design effective educational programmes targeting knowledge barriers may offer a valuable approach to overcome global key barriers in FH care implementation. These educational programmes, preferably developed in collaboration with GPs, should be embedded in implementation science frameworks [22, 23]. Implementation science provides a structured method to integrate recommended strategies and guidelines into practice, focusing on identifying and addressing gaps between current practice and evidence-based recommendations. By leveraging these frameworks, which focus on factors that can create resistance to health system reform, such as resource constraints and computability with existing workflows, tailored interventions can be systematically designed, tested and implemented, which can ultimately improve the detection and management of FH [23].

The current study has several limitations. First, the participants were opportunistically selected, potentially leading to a bias if GPs with a higher affinity towards the subject matter were more likely to respond. However, this would imply an overestimation of the participants’ performance, further emphasising the need for additional efforts to enhance FH knowledge and awareness among Dutch GPs. In addition, substantial efforts were undertaken to ensure the demographic representation of the sample concerning the GP population in the Netherlands.

Second, it is important to note that healthcare systems vary across countries. Particularly, the delivery of primary care may involve various types of physicians in different countries, whereas in the Netherlands, this role is exclusively fulfilled by GPs. Nevertheless, international guidelines assert that FH management should ideally be performed in a primary care setting.