Type of publication:
Jonathan Schofield, See Kwok, Michael France, *Nigel Capps, Ruth Eatough, Rahul Yadav, Kausik Ray, Handrean Soran
Atherosclerosis (2016) [article in press]
Background and aims: Untreated individuals with familial hypercholesterolaemia (FH) are at increased
risk of developing premature cardiovascular disease (CVD). Early diagnosis and treatment can result in a
normal life expectancy. A recent survey commissioned by the European Atherosclerosis Society (EAS)
reported a lack of awareness of FH in the general population.We conducted a survey to assess knowledge
among healthcare professionals involved in the assessment and management of cardiovascular risk and
disease in the United Kingdom.
Methods: A survey designed to assess knowledge of diagnostic criteria, risk assessment, the role of
cascade screening, and management options for patients with FH was distributed to 1000 healthcare
professionals (response rate 44.3%). The same survey was redistributed following attendance at an
educational session on FH.
Results: 151 respondents (40.5%) reported having patients under their care who would meet the diagnostic criteria for FH, but just 61.4% recognized that cardiovascular risk estimation tools cannot be
applied in FH, and only 22.3% understood the relative risk of premature CVD compared to the general
population. Similarly, just 65.9% were aware of recommendations regarding cascade screening.
Conclusions: The prevalence and associated risk of FH continue to be underestimated, and knowledge of
diagnostic criteria and treatment options is suboptimal. These results support the recent Consensus
Statement of the EAS and production of quality standards by the National Institute for Health and Care
Excellence. Further work is required to formulate interventions to improve FH awareness and knowledge, and to determine the effect these interventions have on patient outcomes.