prevalence of FH

Last edited 11/2018

Prevalence of FH

  • 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


  • 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.