Muir L.A.,University of Otago |
George P.M.,Molecular Pathology Laboratory |
Laurie A.D.,Molecular Pathology Laboratory |
Reid N.,Cardiovascular Prevention and Lipid Disorders Clinic |
Whitehead L.,University of Otago
New Zealand Medical Journal | Year: 2010
Aim: To identify the diagnostic and treatment rates for familial hypercholesterolaemia (FH) in New Zealand. Methods: The FH data held by Canterbury Health Laboratories and the Canterbury District Health Board lipid clinic was examined to give an indication of the level of identification and treatment of FH in both Canterbury and New Zealand. Results: Between 2004-08, 588 people, out of a possible 10,500 affected people, who presented with a pre-treatment cholesterol ≥8.0 mmol/L, lipid stigmata or a strong family history of cardiovascular disease (CVD), were tested for low density lipoprotein (LDLR) and apolipoprotein B (APOB) mutations. Mutations were identified in 76 cases (13%). 353 relatives were screened and 159 (45%) were found to have FH. This data suggests that less than 20% of the affected people in Canterbury have been diagnosed and less than 2.2% nationally. Conclusion: FH diagnostic services in New Zealand appear significantly underdeveloped thereby denying affected people the opportunity of early treatment to reduce the risk of premature cardiovascular events. Cascade screening is shown to be a cost effective and efficient approach to identifying people with FH. ©NZMA.