Expert Reviewed By: Dr. Brandon Colby MD
Familial combined hyperlipidemia (FCH) is a common genetic lipid disorder that increases the risk of early atherosclerosis manifestation. Affecting approximately 1-2% of the general population, FCH has complex genetic and environmental causes, making it a challenge to diagnose and manage. In recent years, researchers have turned to genetic testing to better understand, diagnose, and potentially treat this disease. This article delves into the latest research on FCH, its genetic underpinnings, and the role of genetic testing in managing this disorder.
Understanding Familial Combined Hyperlipidemia
FCH is characterized by elevated levels of cholesterol and/or triglycerides in the blood, leading to an increased risk of premature atherothrombotic cardiovascular disease2. The condition is often diagnosed in individuals with a family history of high cholesterol or premature heart disease. The exact cause of FCH is not fully understood, but it is believed to result from a combination of genetic and environmental factors, such as diet and lifestyle choices.
Genetic Factors and Disease Susceptibility
Researchers have identified several genetic loci associated with FCH, including the Apolipoprotein A-II (ApoA-II) gene located on chromosome 1q21-q241. ApoA-II has gained increased interest due to its potential link to not only FCH but also insulin resistance and type 2 diabetes mellitus. Another significant genetic contributor to FCH is the Apo AI-CIII-AIV gene cluster, which has been shown to have different susceptibility haplotypes3.
In a study of Mexican families, researchers identified additional genetic loci associated with early-onset diabetes and combined familial hyperlipidemia4. These findings emphasize the value of gene mapping strategies in understanding the complex genetic basis of FCH and related conditions.
Genetic Testing for Familial Combined Hyperlipidemia
Genetic testing can be a valuable tool in diagnosing and managing FCH, particularly for individuals with a family history of the condition or those who have experienced early-onset cardiovascular disease. Genetic testing can help identify the specific genetic factors contributing to an individual's FCH, allowing for more personalized treatment and management strategies.
Uses of Genetic Testing in Disease Diagnosis
Genetic testing can be used to confirm a suspected diagnosis of FCH, particularly in cases where traditional diagnostic methods, such as blood lipid measurements, have yielded inconclusive results. By identifying the specific genetic factors contributing to a person's FCH, healthcare providers can gain a better understanding of the disease's underlying causes and tailor treatment plans accordingly.
Uses of Genetic Testing in Disease Management
Genetic testing can also play a role in disease management, as it can help healthcare providers determine the most effective treatment strategies for individuals with FCH. For example, individuals with specific genetic factors may respond better to certain medications or lifestyle interventions. In addition, genetic testing can help identify family members who may be at risk for FCH, allowing for early intervention and preventive measures.
Uses of Genetic Testing in Research and Future Treatments
As researchers continue to uncover the complex genetic underpinnings of FCH, genetic testing will play an increasingly important role in advancing our understanding of the disease. By identifying new genetic factors and susceptibility loci, researchers can develop targeted therapies and interventions to help prevent and treat FCH more effectively. Ultimately, genetic testing holds great promise for improving the lives of individuals with FCH and their families.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)