Familial hypercholesterolaemia (FH) is a common genetic dyslipidaemia that brings about a high risk of coronary heart disease, if left untreated. However, if diagnosed and appropriately treated, patients with heterozygous FH (heFH) can have a normal life expectancy.

Recent estimates have questioned the previously commonly accepted prevalence of heFH of one in 500 people. New insights suggest that one in 200 have definite or probable FH. Thus, many more people than expected are likely affected by FH worldwide, a large part of whom remain undiagnosed to date.

Awareness and diagnosis of FH needs to be improved. The European Atherosclerosis Society (EAS) consensus panel addressed this need by writing this document with recommendations on whom to screen for FH. Practical guidelines on how to establish the clinical diagnosis are given. It is outlined when using the Dutch Lipid Clinic Network Criteria is indicated, and when genetic testing is recommended.

The EAS Consensus Panel suggests LDL-c targets, which can substantially reduce the risk for atherosclerosis and CHD in FH patients. If effective treatment is instituted from an early age, the cumulative LDL burden can be importantly reduced, with long-term benefits. However, undertreatment of FH is common; less than 5% of patients achieve LDL-c targets. Not achieving the targets yields an increased coronary risk in suboptimally treated patients.

The EAS Consensus Panel gives guidance on how to start aggressive statin treatment, and what additional treatment to give when LDL-c targets are not met. In addition to suggestions on the type of treatment, it is recommended that most patients be managed in primary care, preferably in a family context. A ‘shared care’ approach between primary care and specialist lipid of FH clinical may also prove fruitful. Naturally, some FH patients may need specialist management.

‘The EAS believes that this Consensus Statement on FH will act as a driver to raise awareness of FH in primary care, where earlier diagnosis and effective treatment can markedly improve life expectancy among FH patients.’

Nordestgaard BG, Chapman MJ,  Humphries SE et al., 2013. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Consensus Statement of the European Atherosclerosis Society. Eur Heart J (2013) doi: 10.1093/eurheartj/eht273

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