Familial hypercholesterolaemia: A pressing issue for European health care

- Familial hypercholesterolaemia is seriously underdiagnosed in England and most European states.
- Early diagnosis and treatment prevents premature CHD.
- Genetic diagnostic testing and cascade screening are cost-effective and recommended.
- Implementation would demonstrate the immediate value of genomic medicine.

The recent European Atherosclerosis Society (EAS) guidelines for the management of familial hypercholesterolaemia (FH) succinctly reiterate the under-diagnosis and poor management of this common genetic disorder, which is associated with greatly increased mortality from coronary heart disease (CHD), especially in young people. The prevalence of FH is thought to be between 1/500 and 1/200, and thus in Europe 1.8-4.5 million individuals have FH. In most European countries including the UK, fewer than 15% of cases have been identified to date, amounting to over 100,000 undiagnosed cases in the UK alone. There are a number of issues that have impeded the implementation of FH diagnostic and management guidelines in Europe; here, we briefly review the current situation in the UK, and propose ways to start to break down implementation barriers that may be applicable across Europe. Despite guidelines by the UK National Institute of Health and Clinical Excellence (NICE) published in 2008 that recommend genetic testing of index cases and cascade screening of their family members, and the recent NICE Quality Standards for management of FH (QS41), there has been little action towards systematic diagnosis in England despite implementation of systematic screening programmes in Scotland, Wales, Northern Ireland and in other selected countries in Europe. This is surprising because early treatment with statins provides an effective and cheap treatment that reduces mortality to near that found in the normolipidaemic population. With increasing emphasis on preventive medicine and genetic diagnosis across the medical specialties, FH is a clear example of how new genome technologies can - and should - be deployed now for the benefit of patients.