The role of genetic variations in metabolic syndrome: insights into etiology, diagnosis, and management

Italian Journal of Medicine, 2025

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DOI 10.4081/itjm.2025.1908
Data confidence 85 high
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Abstract

Metabolic syndrome (MetS) is a cluster of interrelated conditions primarily driven by excessive caloric intake, physical inactivity, and excess abdominal fat. Core features include abdominal obesity, insulin resistance, dyslipidemia, and elevated blood pressure. MetS is also closely associated with several comorbidities, such as a prothrombotic state, systemic inflammation, non-alcoholic fatty liver disease, and reproductive abnormalities. Its global prevalence is rising rapidly, particularly in urbanized areas and developing nations, reflecting changing lifestyles and dietary patterns. This surge has significant public health implications, as individuals with MetS face a twofold higher risk of developing cardiovascular diseases and a fivefold increased likelihood of progressing to type 2 diabetes. Managing MetS requires a multifaceted approach, with lifestyle modification as the cornerstone. Sustainable weight loss, achieved through dietary changes, regular physical activity, and behavioral interventions, is essential. Concurrently, it is critical to address other cardiovascular risk factors aggressively, including hypertension, hyperlipidemia, and hyperglycemia, to mitigate long-term health complications. As the prevalence of MetS continues to grow, understanding its pathophysiology and implementing comprehensive management strategies are paramount to reducing its global burden and improving patient outcomes.