Identification and management of familial hypercholesterolaemia: what does it mean to primary care?

British Journal of General Practice

Rubin Minhas¹  Mary Seed¹  on behalf of the NICE Guideline Development Group¹  Nadeem Qureshi¹  Philip Rowlands¹  Steve E Humphries¹ 

[1] Division of Primary Care, Graduate Medical School, University of Nottingham

关键词: family health;    familial hypercholesteroaemia;    family health;    medical genetics;    primary health care;   

DOI  :  10.3399/bjgp09X472674

学科分类：卫生学

来源: Royal College of General Practitioners

【 摘 要 】

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

【 授权许可】

Unknown