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Familial combined hyperlipidaemia/polygenic mixed hyperlipidaemia.

Juan Pedro-Botet1, Elisenda Climent1, Nuria Gabarró2

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Familial combined hyperlipidaemia (FCH) is a common genetic lipid disorder increasing cardiovascular risk. This review highlights recent advances to improve FCH diagnosis and treatment.

Keywords:
DislipidemiaDyslipidaemiaFamilial combined hyperlipidaemiaHipercolesterolemiaHiperlipemia familiar combinadaHipertrigliceridemiaHypercholesterolaemiaHypertriglyceridaemia

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Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Familial combined hyperlipidaemia (FCH) is the most common inherited lipid disorder.
  • It has a multigenic origin, influenced by genetic and environmental factors.
  • FCH significantly elevates cardiovascular disease risk and is often linked to metabolic syndrome.

Purpose of the Study:

  • To review recent advances in understanding Familial Combined Hyperlipidaemia.
  • To increase awareness of FCH among healthcare professionals.
  • To improve the clinical management and cardiovascular prevention strategies for FCH patients.

Main Methods:

  • Literature review of recent studies on FCH.
  • Analysis of genetic and environmental interactions in FCH.
  • Synthesis of current clinical guidelines and research findings.

Main Results:

  • FCH is underdiagnosed and undertreated, despite its cardiovascular implications.
  • Recent research clarifies the oligogenic nature and complex inheritance of FCH.
  • Advances in understanding FCH contribute to better risk stratification.

Conclusions:

  • Increased awareness and improved diagnostic approaches are crucial for FCH.
  • Timely and effective treatment of FCH is essential for cardiovascular prevention.
  • Further research is needed to optimize the clinical control of FCH.