Sitosterolemia and Early Atherosclerosis: A Review of Genetic Mechanisms and Newer Diagnostic Methods
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Sitosterolemia is an autosomal recessive disorder associated with premature atherosclerotic disease and the production of physical xanthomas in response to increased plant sterols in the body. Since its initial report in 1974, there has been growing interest in the concept of fats derived from plant-based foods, which may lead to severe atherosclerosis. We review the current pathogenesis, diagnostic methods, and treatment options for sitosterolemia. We aim to provide a deeper understanding of how plant sterols may contribute to the progression of atherosclerosis and increased cardiovascular risk in genetically susceptible individuals.