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[Familial combined hyperlipidemia: consensus document]
Pedro Mata1, Rodrigo Alonso2, Antonio Ruíz-Garcia3
1Fundación Hipercolesterolemia Familiar, Madrid, España.
Insights
Familial combined hyperlipidemia (FCH) is a common inherited condition increasing the risk of early heart disease. Effective management involves lipid-lowering drugs and controlling other risk factors like diabetes and hypertension.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Context:
- Familial combined hyperlipidemia (FCH) is a prevalent genetic disorder linked to premature coronary artery disease.
- Diagnosis relies on clinical criteria, including lipid phenotype variability and family history.
- FCH often co-occurs with type 2 diabetes mellitus, hypertension, and central obesity.
Purpose:
- To provide updated recommendations for the diagnosis and comprehensive management of FCH.
- To guide specialists and general practitioners in treating patients with FCH.
- To emphasize the importance of managing associated cardiovascular risk factors.
Summary:
- FCH is an autosomal dominant condition with complex genetic underpinnings.
- Patients with FCH are at high cardiovascular risk, necessitating aggressive lipid management.
- Treatment involves potent statins, potentially combined therapies, and control of diabetes and hypertension.
Impact:
- Improved diagnosis and management of FCH can reduce the burden of cardiovascular disease.
- Targeting LDL-cholesterol to <100mg/dL (or <70mg/dL with existing CVD/diabetes) is crucial.
- Integrated care addressing all cardiovascular risk factors is essential for patient outcomes.
Abstract:
Familial combined hyperlipidemia (FCH) is a frequent disorder associated with premature coronary artery disease. It is transmitted in an autosomal dominant manner, although there is not a unique gene involved. The diagnosis is performed using clinical criteria, and variability in lipid phenotype and family history of hyperlipidemia are necessaries. Frequently, the disorder is associated with type2 diabetes mellitus, arterial hypertension and central obesity. Patients with FCH are considered as high cardiovascular risk and the lipid target is an LDL-cholesterol <100mg/dL, and <70mg/dL if cardiovascular disease or type 2 diabetes are present. Patients with FCH require lipid lowering treatment using potent statins and sometimes, combined lipid-lowering treatment. Identification and management of other cardiovascular risk factors as type 2 diabetes and hypertension are fundamental to reduce cardiovascular disease burden. This document gives recommendations for the diagnosis and global treatment of patients with FCH directed to specialists and general practitioners.
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