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Familial hypercholesterolaemia

BMJ 2023; 382 doi: https://doi.org/10.1136/bmj-2022-073280 (Published 10 July 2023) Cite this as: BMJ 2023;382:e073280

This article has a correction. Please see:

  1. Sarah McErlean, clinical academic fellow1,
  2. Balwani Mbakaya, associate professor2 3,
  3. Cormac Kennedy, consultant clinical pharmacologist and physician4 5
  1. 1Department of General Practice, UCD School of Medicine, University College Dublin, Dublin, Ireland
  2. 2Public Health Department, Faculty of Applied Sciences, University of Livingstonia, Malawi
  3. 3Biological Sciences Department, Faculty of Science, Technology and Innovation, Mzuzu University, Malawi
  4. 4Department of Pharmacology, School of Medicine, Trinity College Dublin, Ireland
  5. 5Department of Pharmacology and HRB Clinical Research Facility, St James's Hospital, Dublin 8, Ireland
  1. Correspondence to: S McErlean sarah.mcerlean{at}ucd.ie

What you need to know

  • Familial hypercholesterolaemia is a common genetic condition affecting 1 in 310 people, resulting in premature coronary artery disease due to elevated cholesterol levels from birth

  • If a parent has familial hypercholesterolaemia, there is a 50% chance their child will inherit the condition

  • Treatment is based on lowering low density lipoprotein (LDL) cholesterol concentration, with a target of at least 50% reduction from baseline

Heterozygous familial hypercholesterolaemia is the most common autosomal dominant genetic condition, affecting approximately 1 in 310 people around the world.12 It causes markedly elevated low density lipoprotein (LDL) cholesterol from birth.1234 It has a high penetrance, and elevated LDL cholesterol can begin in utero, with an LDL cholesterol concentration >4 mmol/L in children and >5 mmol/L in adults suggesting its presence.5

What is familial hypercholesterolaemia?

Familial hypercholesterolaemia is caused by a functional mutation that impairs LDL receptor-mediated uptake of the LDL particle, therefore resulting in higher LDL cholesterol in the bloodstream.67 Most of those affected (85-90%) have a mutation in the LDL receptor gene.68 Familial hypercholesterolaemia can be classified as heterozygous or homozygous depending on the presence of one or two affected gene alleles.9 However, the heterozygous form is common, whereas the homozygous form is very rare.

It is estimated that 25-35 million people worldwide inherit the condition but fewer than 10% are ever diagnosed and most remain untreated.1349 Most studies reporting the prevalence of familial hypercholesterolaemia in the general population are from Europe, North America, East Asia, and Australia, so it is unclear if the same underlying prevalence exists in different parts of the world and among different ethnicities.12 Some populations with founder effects have a higher prevalence of familial hypercholesterolaemia—for example, South African Afrikaners and Ashkenazi Jews have a prevalence of 1-1.5%.10 …

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