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Familial hypercholesterolaemia 10–20 times more common in heart disease patients

Cardiology – July 2020 digest

Large meta-analysis finds a high prevalence of familial hypercholesterolaemia in people with ischaemic heart disease and severe hypercholesterolaemia.

Beheshti SO, Madsen CM, Varbo A, Nordestgaard BG (2020) Worldwide prevalence of familial hypercholestrerolemia. Meta-analyses of 11 million subjects. J Am Coll Cardiol 75: 2553–66

  • An estimated 30 million people worldwide have familial hypercholesterolaemia, which is caused by mutations in three genes that regulate LDL cholesterol, resulting in elevated LDL cholesterol and increased ischaemic heart disease (IHD) risk.
  • This systematic review and meta-analysis aimed to estimate the worldwide prevalence of the condition in individuals with IHD, premature IHD and severe hypercholesterolaemia.
  • A total of 104 eligible studies including over 11 million individuals were identified in a search of Embase, PubMed and the Web of Science. Random-effects meta-analysis was used to pool estimates of the prevalence of familial hypercholesterolaemia in the general population and target populations.
  • The authors found familial hypercholesterolaemia to be present in 0.32% of the general population, or one in 313 individuals; whereas it occurred in 3.2% of people with IHD, 6.7% of those with premature IHD and 7.2% of those with severe hypercholesterolaemia. This equates to a 10-fold greater prevalence in individuals with IHD and 20-fold greater prevalence in those with premature IHD when compared to the general population.
  • Only 17 countries have reported the prevalence of familial hypercholesterolaemia in the general population, meaning its prevalence is unknown in over 90% of nations.
  • The authors highlight that familial hypercholesterolaemia is underdiagnosed and undertreated in many countries and in light of the findings advocate the early identification and treatment of consistently high LDL cholesterol to reduce IHD risk in individuals with familial hypercholesterolaemia. 

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