The role of genetic testing in dyslipidaemia

Pathology. 2019 Feb;51(2):184-192. doi: 10.1016/j.pathol.2018.10.014. Epub 2018 Dec 14.


Dyslipidaemias encompass about two dozen relatively rare monogenic disorders and syndromes for which the genetic basis has largely been defined. In addition, the complex polygenic basis of disturbed lipids and lipoproteins has been characterised in many patients, and has been shown to result from accumulation of many common polymorphisms with small effects on lipids. Genetic technologies, including dedicated genotyping and sequencing methods can detect both rare and common DNA variants underlying dyslipidaemias. Some dyslipidaemias may be clinically silent for years, but early diagnosis, including genetic diagnosis, may permit early intervention to prevent or delay deleterious downstream clinical consequences, such as premature vascular disease or acute pancreatitis. The potential clinical utility of genetic testing for familial hypercholesterolaemia, familial chylomicronaemia syndrome, lysosomal acid lipase deficiency and some others will increase demand for reliable genetic diagnostic methods. We review some current technologies, such as targeted next-generation sequencing that seem to be helpful with DNA diagnosis of dyslipidaemias. We also address technical, biological and clinical limitations of genetic testing in dyslipidaemias. Finally, genetic counselling issues, the potential impact of results on patients and health care providers, current gaps and future directions will be discussed.

Keywords: Genetic testing; dyslipidaemia; familial chylomicronaemia; familial hypercholesterolaemia.

Publication types

  • Review

MeSH terms

  • DNA Copy Number Variations
  • Dyslipidemias / diagnosis*
  • Dyslipidemias / genetics
  • Genetic Counseling
  • Genetic Testing*
  • Genotyping Techniques
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Hyperlipoproteinemia Type I / diagnosis*
  • Hyperlipoproteinemia Type I / genetics
  • Hyperlipoproteinemia Type II / diagnosis*
  • Hyperlipoproteinemia Type II / genetics
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Sequence Analysis, DNA

Supplementary concepts

  • Familial hyperchylomicronemia syndrome