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Familial combined hyperlipidaemia/polygenic mixed hyperlipidaemia
Juan Pedro-Botet1, Elisenda Climent1, Nuria Gabarró2
1Unidad de Lípidos y Riesgo Vascular, Hospital del Mar, Departament de Medicina, Universitat Autònoma de Barcelona, Barcelona, España.
Insights
Familial combined hyperlipidaemia (FCH) is a common genetic lipid disorder increasing cardiovascular risk. This review highlights recent advances to improve FCH diagnosis and treatment.
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.
Abstract:
Familial combined hyperlipidaemia (FCH) is the most prevalent form of familial hyperlipidaemia with a multigenic origin and a complex pattern of inheritance. In this respect, FCH is an oligogenic primary lipid disorder due to interaction of genetic variants and mutations with environmental factors. Patients with FCH are at increased risk of cardiovascular disease and often have other associated metabolic conditions. Despite its relevance in cardiovascular prevention, FCH is frequently underdiagnosed and very often undertreated. In this review, emphasis is placed on the most recent advances in FCH, in order to increase its awareness and ultimately contribute to improving its clinical control.
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