Familial hypercholesterolaemia: a common cause of premature coronary disease in the community and a paradigm for the practice of precision medicine

Research output: Contribution to journalReview article

Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant dyslipidemia with an estimated worldwide prevalence of 1 in 250. It is characterised by elevation of low-density lipoprotein cholesterol from birth. If untreated, FH confers a significant risk for premature cardiovascular disease. Recent publications provide a wealth of new information on screening approaches, genetic testing, risk prediction and new therapies such as the proprotein convertase subtilisin/kexin type 9 monoclonal antibodies. We present here the science of FH, a review of major advances in the care of FH in the form of a “how to” guide and an overview of initiatives for closing the worldwide gaps in care. The reader is invited to check his or her family history of heart disease and cholesterol level to see whether FH is possible and requires early prophylactic treatment.
Original languageEnglish
Pages (from-to)16-26
JournalTasman Medical Journal
Volume1
Issue number2
Publication statusPublished - 2019

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