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

Bates, Timothy R.; Burnett, John R.; Bockxmeer, Frank M. van; Hamilton, Sandra; Arnolda, Leonard; Watts, Gerald F.

doi:10.1016/j.hlc.2007.06.005

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

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

Timothy R. Bates, FRACP
- Lipid Disorders Clinic and Department of Internal Medicine, Royal Perth Hospital, GPO Box X2213, Perth, Western Australia 6847, Australia
John R. Burnett, MD, PhD
- Lipid Disorders Clinic and Department of Internal Medicine, Royal Perth Hospital, GPO Box X2213, Perth, Western Australia 6847, Australia
- Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, GPO Box X2213, Perth, Western Australia 6847, Australia
- School of Surgery and Pathology, University of Western Australia, MRF Building, 50 Murray Street, Level 4, Perth, Western Australia 6000, Australia
Frank M. van Bockxmeer, PhD, FAHA
- School of Surgery and Pathology, University of Western Australia, MRF Building, 50 Murray Street, Level 4, Perth, Western Australia 6000, Australia
- Cardiovascular Genetics Laboratory, Division of Laboratory Medicine, PathWest Laboratory Medicine WA, Royal Perth Hospital, GPO Box X2213, Perth, Western Australia 6847, Australia
Sandra Hamilton, BSc
- Lipid Disorders Clinic and Department of Internal Medicine, Royal Perth Hospital, GPO Box X2213, Perth, Western Australia 6847, Australia
- School of Medicine and Pharmacology, University of Western Australia, MRF Building, 50 Murray Street, Level 4, Perth, Western Australia 6000, Australia
Leonard Arnolda, PhD, FRACP
- School of Medicine and Pharmacology, University of Western Australia, MRF Building, 50 Murray Street, Level 4, Perth, Western Australia 6000, Australia
- Department of Cardiology, Royal Perth Hospital, GPO Box X2213, Perth, Western Australia 6847, Australia
Gerald F. Watts, DSc, FRACP
- Lipid Disorders Clinic and Department of Internal Medicine, Royal Perth Hospital, GPO Box X2213, Perth, Western Australia 6847, Australia
- School of Medicine and Pharmacology, University of Western Australia, MRF Building, 50 Murray Street, Level 4, Perth, Western Australia 6000, Australia
- Corresponding 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.

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.

Keywords: Familial hypercholesterolaemia, Premature coronary artery disease, Underdetection