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Volume 17, Issue 5, Pages 411-413 (October 2008)


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Detection of Familial Hypercholesterolaemia: A Major Treatment Gap in Preventative Cardiology

Timothy R. Bates, FRACPa, John R. Burnett, MD, PhDabc, Frank M. van Bockxmeer, PhD, FAHAcd, Sandra Hamilton, BScae, Leonard Arnolda, PhD, FRACPef, Gerald F. Watts, DSc, FRACPaeCorresponding Author Informationemail address

Received 26 March 2007; received in revised form 12 May 2007; accepted 6 June 2007.

Familial hypercholesterolaemia (FH) is a common genetic disorder that untreated has an almost one hundredfold risk of coronary artery disease (CAD). In an audit of 334 patients with premature CAD admitted to a Department of Cardiology, only 60% of medical records had sufficient clinical information for identifying FH. Of those with sufficient information recorded, 54% of patients had possible to definite FH on recognised clinical criteria. Amongst those with FH, only 38% were on statin therapy and only 22% were treated to National Heart Foundation targets. Detection and treatment of FH represents a major gap in coronary prevention.

a Lipid Disorders Clinic and Department of Internal Medicine, Royal Perth Hospital, GPO Box X2213, Perth, Western Australia 6847, Australia

b Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, GPO Box X2213, Perth, Western Australia 6847, Australia

c School of Surgery and Pathology, University of Western Australia, MRF Building, 50 Murray Street, Level 4, Perth, Western Australia 6000, Australia

d Cardiovascular Genetics Laboratory, Division of Laboratory Medicine, PathWest Laboratory Medicine WA, Royal Perth Hospital, GPO Box X2213, Perth, Western Australia 6847, Australia

e School of Medicine and Pharmacology, University of Western Australia, MRF Building, 50 Murray Street, Level 4, Perth, Western Australia 6000, Australia

f Department of Cardiology, Royal Perth Hospital, GPO Box X2213, Perth, Western Australia 6847, Australia

Corresponding Author InformationCorresponding author at: Lipid Disorders Clinic, Royal Perth Hospital, GPO Box X2213, Perth, Western Australia 6847, Australia. Tel.: +61 8 9224 0245; fax: +61 8 9224 0246.

PII: S1443-9506(07)00273-9

doi:10.1016/j.hlc.2007.06.005


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