Intended for healthcare professionals

Practice Easily Missed?

Familial hypercholesterolaemia

BMJ 2012; 344 doi: (Published 11 May 2012) Cite this as: BMJ 2012;344:e3228
  1. Peter J Gill, MD/PhD student12,
  2. Anthony Harnden, university lecturer in general practice1,
  3. Fredrik Karpe, professor of metabolic medicine3
  1. 1Department of Primary Care Health Sciences, University of Oxford, Oxford OX1 2ET, UK
  2. 2Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada
  3. 3Oxford Centre for Diabetes, Endocrinology & Metabolism, Churchill Hospital, Oxford OX3 7LJ
  1. Correspondence to: P J Gill peter.gill{at}
  • Accepted 5 April 2012

A 25 year old man visits his general practitioner concerned after his 52 year old father suddenly died of a heart attack. His paternal uncle and grandfather died of heart attacks in their 40s. On examination he has xanthomas on the extensor tendons of his hands. Laboratory investigations reveal total cholesterol 9.3 mmol/L and low density lipoprotein (LDL) cholesterol 6.6 mmol/L. He is diagnosed with familial hypercholesterolaemia, given lifestyle advice, started on simvastatin 80 mg, and referred to a specialist for genetic testing and cascade screening of his relatives.

What is familial hypercholesterolaemia?

Familial hypercholesterolaemia is an inherited autosomal dominant genetic disorder characterised by high serum cholesterol concentrations detectable at a young age.1 2 It is associated with early cardiovascular disease, and an underlying genetic cause can be identified in about 80% of cases.2 3

How common is familial hypercholesterolaemia?

  • Heterozygous familial hypercholesterolaemia affects about 1 in 500 people (about 110 000 people in the UK)1 2

  • An average UK general practice with 8000 patients will have about 16 patients with familial hypercholesterolaemia clustered in five to seven families4 5

  • Certain populations have a higher frequency of familial hypercholesterolaemia such as Afrikaners in South Africa (1 in 70) and French Canadians (1 in 200)1 2

  • Homozygous familial hypercholesterolaemia occurs with a frequency of 1 in 1 000 000 people1

Why is familial hypercholesterolaemia missed?

Underdiagnosis is a global challenge, with correct identification ranging from less than 1% in Russia to 20% in the Netherlands and 44% in Iceland.2 In the UK only 15% of patients with familial hypercholesterolaemia are expected to have been recognised in general practice.5 6 7

It is not known why patients with familial hypercholesterolaemia are often missed in primary care, but many seem to be diagnosed in middle age when family members present with coronary heart disease.5 …

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