Historically, the prevalence of heterozygous FH was 1 in 500 persons
FH affects approximately between 1 in 250 to 1 in 500 people in the UK, which is about 130,000 - 260,000 people, including children (1)
..Most cases of FH remain undiagnosed, and only an estimated 8-15% of cases are known (based on prevalence estimates of 1:250 and 1:500)
in populations such as French Canadians, Ashkenazi Jews, Lebanese, and several South African populations, the prevalence may be as high as 1 in 100 (2)
most patients with homozygous FH have extreme hypercholesterolemia with rapidly accelerated atherosclerosis when left untreated (1)
heterozygotes arise when a mutation is inherited from one parent only; whereas homozygotes develop when the same mutated gene is inherited from both parents
Reference:
Public Health England (August 2018).Familial Hypercholesterolaemia Implementing a systems approach to detection and management.
Raal FJ, Santos RD. Homozygous familial hypercholesterolemia: Current perspectives on diagnosis and treatment. Atherosclerosis. 2012;223:262-268.
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