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.
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