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Genetic Lipid Disorders Associated with Atherosclerotic Cardiovascular Disease: Molecular Basis to Clinical Diagnosis
Reed Mszar1, Gayley B Webb2, Vivek T Kulkarni2
1Yale Center for Outcomes Research and Evaluation, New Haven, CT, USA.
Insights
Millions globally have undiagnosed genetic lipid disorders, including familial hypercholesterolemia. Early identification of inherited lipid conditions is crucial for managing atherosclerotic cardiovascular disease risk.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Background:
- Genetic lipid disorders affect millions worldwide and are frequently undiagnosed.
- Common conditions include familial hypercholesterolemia and familial combined hyperlipidemia; rare ones include familial chylomicronemia syndrome.
- These disorders contribute significantly to atherosclerotic cardiovascular disease (ASCVD) risk.
Purpose of the Study:
- To highlight the prevalence and underdiagnosis of genetic lipid disorders.
- To emphasize the importance of considering inherited lipid conditions in clinical practice.
- To advocate for a comprehensive evaluation of genotype, phenotype, and environmental factors in ASCVD risk assessment.
Main Methods:
- Review of existing literature on genetic lipid disorders.
- Analysis of epidemiological data on dyslipidemias.
- Clinical case considerations for diagnosis.
Main Results:
- Genetic lipid disorders encompass a spectrum from common dyslipidemias to rare inherited conditions.
- A significant portion of the global population is affected, with many cases remaining undiagnosed.
- Severe lipid derangements warrant consideration of underlying genetic causes.
Conclusions:
- Clinicians must consider inherited lipid disorders when encountering severe lipid abnormalities.
- Integrated assessment of genetic and environmental factors is essential for accurate ASCVD risk stratification.
- Improved diagnostic approaches are needed to address the underdiagnosis of these conditions.
Abstract:
Genetic lipid disorders, ranging from common dyslipidemias such as familial hypercholesterolemia, lipoprotein (a), and familial combined hyperlipidemia to rare disorders including familial chylomicronemia syndrome and inherited hypoalphalipoproteinemias (ie, Tangier and fish eye diseases), affect millions of individuals in the United States and tens of millions around the world and are often undiagnosed in the general population. Clinicians should take into consideration the potential of inherited lipid disorders or syndromes when severe derangements in lipid parameters are observed. Patients' combined genotype and phenotype should be evaluated in conjunction with a host of environmental factors impacting their risk of atherosclerotic cardiovascular disease.
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