Familial hypercholesterolaemia (FH) is the most common monogenic lipid disorder associated
with premature coronary heart disease (CHD). However, the majority of people with
FH are undiagnosed or undertreated. Early cholesterol lowering therapy reduces cardiovascular
disease mortality in FH. Low awareness and knowledge of FH in specialty and general
practice highlights the need for strategies to improve the detection and management
of FH.
We present an algorithm describing a multidisciplinary approach to FH detection and
management. We highlight the role of primary care, and where GPs can work with preventive
cardiologists to improve care of FH. Novel strategies to detect index cases with FH
are presented including the community laboratory, highlighting patients at high risk
of FH, and targeted FH detection through searching the general practice database.
General practitioners request over 90% of LDL cholesterol measurements in the community.
Once an individual with FH is detected only a small proportion of patients require
specialty management with the majority of patients suitably managed in primary care.
However, it is crucial to screen family members, as 50% of first-degree family members
are expected to have FH due to the autosomal dominant inheritance.
Keywords
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Article info
Publication history
Published online: August 14, 2014
Accepted:
July 11,
2014
Received in revised form:
July 9,
2014
Received:
March 17,
2014
Identification
Copyright
© 2014 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier Inc. All rights reserved.
