作者: Nadeem Qureshi , Steve E Humphries , Mary Seed , Philip Rowlands , Rubin Minhas
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摘要: Familial hypercholesterolaemia is one of the most common dominantly inherited disorders to be identified in primary care, leading raised serum cholesterol evident from first year life. Around 1 500 people are affected by this condition, but less than 15% these currently attending lipid clinics, suggesting that vast majority unrecognised general practice. The recently released National Institute for Health and Clinical Excellence evidence-based guideline on identification management familial provides an opportunity bridge gap. Primary care has a role systematic opportunistic case finding, such as recognising relevance family history premature coronary heart disease and/or grossly elevated cholesterol. Although individuals need specialist GPs can reinforce information provided specialists support cascade screening other members extended family.