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Although the recently published NICE Guideline on the Identification and Management of Familial Hypercholesterolaemia contains no surprises for those involved in running specialist lipid clinics, it is a landmark in establishing the case for a greater recognition of familial hypercholesterolaemia by general practitioners, general physicians, cardiologists and paediatricians and for the need to consolidate and expand lipid clinic services and ensure high clinical standards are maintained. Heterozygous familial hypercholesterolaemia (HeFH) affects 1 in 500 people. This represents some 110 000 of the UK population, similar to the number having type 1 diabetes. The great majority are either undetected or have received incorrect advice from a physician with inadequate knowledge of their condition.1 This is all the more unfortunate because with appropriate treatment the life expectancy in HeFH is now similar to that of the general population2 whereas, untreated, men, in particular, experience symptomatic cardiac ischaemia increasingly from their late 20s. Some 50% of affected men and 15% of women will have died of coronary and aortic root disease before the age of 60 years.3 4
HeFH results from a dominantly inherited defect in low-density lipoprotein (LDL) catabolism, usually an LDL-receptor mutation. The catalogue of LDL-receptor mutations that can cause HeFH is enormous with some 1000 recorded and the number growing.5 Hitherto, a lack of resources for genetic testing and the difficulty of locating many of the mutations have meant that in only a minority of families has a DNA diagnosis been possible. That is set to change with calls for greater NHS investment in this area (both in the NICE report itself and because of the need for something tangible to emerge from investment in the human genome project and new DNA technologies).
Key to the recommendations is that clinicians generally should be …
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