title: Identification and management of  familial hypercholesterolaemia:  what does it mean to primary care?
abstract: 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.
authors.affiliation: Graduate Medical School, University of Nottingham, City Hospital, Derby. nadeem.qureshi@nottingham.ac.uk
authors.forename: Nadeem
authors.initials: N
authors.lastname: Qureshi
authors.forename: Steve E
authors.initials: SE
authors.lastname: Humphries
authors.forename: Mary
authors.initials: M
authors.lastname: Seed
authors.forename: Philip
authors.initials: P
authors.lastname: Rowlands
authors.forename: Rubin
authors.initials: R
authors.lastname: Minhas
mesh_terms: D005192:Family Health; D005194:Family Practice; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D008297:Male; D008875:Middle Aged; D017410:Practice Guidelines as Topic; D012017:Referral and Consultation