Genomics in general practice

Familial hypercholesterolaemia

Genomics in general practice
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  1. Summary of genetic testing
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Last revised: 30 Nov 2018

Practice point

General practitioners (GPs) are well placed to undertake opportunistic screening for familial hypercholesterolaemia (FH).1 Family screening is critical when a diagnosis of FH is made in an individual.2,3
 

FH is a lipid disorder that leads to premature cardiovascular disease (CVD). FH follows an autosomal dominant inheritance pattern. If FH is left untreated, males have a 50% chance of developing CVD before 50 years of age, and women have a 30% chance of developing CVD by 60 years of age. Early diagnosis and treatment of FH reduces the risk of CVD.1

The risk of FH can be assessed using the Dutch Lipid Clinic Network Criteria (DLCNC; refer to the PDF version of the Red Book appendix 2b ).4

FH assessment should be conducted when an individual presents with:

  • clinical features such as xanthomata
  • low-density lipoprotein cholesterol (LDL-C) >4.0 mmol/L or total cholesterol >7.5 mmol/L
  • premature CVD or a family history of such (CVD <55 years of age for males and <65 years of age for females).1,2,5

While FH can be diagnosed clinically  a confirmatory deoxyribonucleic acid (DNA) test allows for  cascade screening within the family of an affected patient.5

Refer individuals with a DLCNC score of ≥3 (ie possible-to-definite FH) to a cardiologist or lipid clinic for confirmation of diagnosis, including possible genetic testing.2,4

Those diagnosed with FH should be encouraged to:1

  • inform family members that they may be at increased risk of FH
  • direct family members to further information about FH
  • advise family members to discuss their risk of FH with their GP.

Information

Better Health Channel, Genetic factors and cholesterol
Centre for Genetics Education, Fact sheet 56: Familial hypercholesterolaemia

Support

FH Australasia Network

  1. Kirke A, Watts GF, Emery J. Detecting familial hypercholesterolaemia in general practice. Aust Fam Physician 2012;41(12):965–68 [Accessed 19 December 2017].
  2. The Royal Australian College of General Practitioners. Guidelines for preventive activities in general practice. 9th edn.Melbourne: RACGP, 2016 [Accessed 19 December 2017].
  3. Bell DA, Watts GF. Progress in the care of familial hypercholesterolaemia: 2016. Med J Aust 2016;205(5):232–36. [Accessed 19 December 2017].
  4. Watts GF, Sullivan DR, Poplawski N, et al. Familial hypercholesterolaemia: A model of care for Australasia. Atherosclerosis Supplements 2011;12(2):221–63. [Accessed 19 December 2017].
  5. Cardiac Society of Australia and New Zealand. Guidelines for the diagnosis and management of familial hypercholesterolaemia. Sydney: CSANZ, 2013 [Accessed 19 December 2017].
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