Familial Hypercholesterolaemia

Familial Hypercholesterolaemia [FH] is a common inherited disorder of lipid metabolism causing high levels of low-density-lipoprotein cholesterol [LDL-C], which frequently lead to early coronary heart disease [CHD]. Roughly half of men with FH, if untreated, will have developed clinically evident CHD by the age of 55 years, while affected women from the same families typically develop CHD ~10 years later than their affected male relatives.

A significant reduction in the mortality and morbidity of the disease can be achieved through changes in lifestyle and the use of statins to lower cholesterol, but currently the vast majority of affected individuals in the UK remain undiagnosed [probably 85% of the predicted 120,000 cases].Testing the families of known cases of FH [cascade testing] can identify those with FH, and modelling indicates this will be cost-effective.

An audit to explore the organisation and care within lipid clinics for the management of FH, based on these recommendations is being developed by the Clinical Effectiveness and Evaluation Unit [CEEU] of the Royal College of Physicians Clinical Standards Department. The project will be undertaken as a pilot project and will survey 10-15 sites in England. It is anticipated that Wales will also take part.

The pilot project is currently underway with pilot sites currently collecting data on up to 40 patients with FH attending lipid clinics. Data collection will close in April and a national report, indicating the range of achievements with key messages and recommendations for service improvement, will be available in June 2009.

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