Monogenic hyperlipidemias

Acta Biomed. 2019 Sep 30;90(10-S):47-49. doi: 10.23750/abm.v90i10-S.8757.


Monogenic hyperlipidemias are a group of inherited disorders characterized by elevated plasma concentrations of lipids and lipoproteins. High plasma concentrations of lipids are the most frequent risk factor for cardiovascular disease. Monogenic hyperlipidemias are a minor cause with respect to multifactorial hyperlipidemias. Diagnosis is based on clinical findings and lipid panel measurements. Genetic testing is useful for confirming diagnosis and for differential diagnosis, recurrence risk calculation and prenatal diagnosis in families with a known mutation. Monogenic hyperlipidemias can have either autosomal dominant or recessive inheritance.

Publication types

  • Review

MeSH terms

  • Genetic Testing
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Hyperlipidemias / diagnosis*
  • Hyperlipidemias / genetics*
  • Mutation