This new framework has been prepared to assist commissioners in implementing NICE guideline 71, identification and management of familial hypercholesterolaemia.
FH is a genetic disorder characterised by high cholesterol levels, and is one of the most frequently occurring inherited conditions. People with FH are at high risk of premature coronary heart disease (CHD), which can lead to a dramatic decrease in quality of life or premature death. However, early diagnosis and correct management can greatly reduce a person’s risk of developing CHD.
FH is hugely under diagnosed. About 90% of people with FH go undetected and may be disabled or die from CHD early in life. The key to improving outcomes is early identification - which in turn enables preventative treatment to start early. Whenever FH is diagnosed, it is important that all close relatives are followed up so they can start preventative treatment.
Although the NICE guideline was published in 2008, few commissioners have taken action and FH remains something of a Cinderella condition. Commissioners may also find it useful to look at the toolkit on familial hypercholesterolaemia recently published by Heart UK.
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