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Br J Gen Pract. Oct 1, 2009; 59(567): 773–778.
Published online Sep 16, 2009. doi:  10.3399/bjgp09X472674
PMCID: PMC2751920

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

Nadeem Qureshi, MBBS, MSc, DM, Clinical Associate Professor of Primary Care
Division of Primary Care, Graduate Medical School, University of Nottingham
Steve E Humphries, PhD, MRCP, FRCPath, BHF Professor of Cardiovascular Genetics
Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, London
Mary Seed, MA, DM, FRCPath, FRCP, Honorary Consultant Physician
Department of Cardiology, Imperial College Healthcare, Lipid Clinic, University of London
Philip Rowlands, Health Education Consultant
Funky Medics, Briar Bank Studios, Penarth
Rubin Minhas, Visiting Harkness Fellow
Medway Primary Care Trust, Gillingham, Kent
on behalf of the NICE Guideline Development Group

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.

Keywords: family health, familial hypercholesteroaemia, family health, medical genetics, primary health care

Articles from The British Journal of General Practice are provided here courtesy of Royal College of General Practitioners