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These studies suggest that signs of high cholesterol include physical signs like tendon xanthomas or corneal arcus, increased risk of coronary artery disease, and elevated serum uric acid levels.
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One of the most visible signs of high cholesterol, particularly in individuals with familial hypercholesterolemia (FH), is the presence of tendon xanthomas and corneal arcus. Tendon xanthomas are cholesterol deposits in the tendons, often seen in the Achilles tendon and hands, while corneal arcus is a gray or white arc visible around the cornea of the eye. These physical signs are strongly associated with higher levels of low-density lipoprotein (LDL) cholesterol and an increased risk of coronary artery disease (CAD) . Studies have shown that individuals with these signs have significantly higher LDL cholesterol levels and a greater prevalence of genetic mutations related to cholesterol metabolism, such as those in the LDL receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes.
The presence of clinical signs like xanthomas and a family history of hypercholesterolemia can significantly increase the risk of CAD. Research indicates that individuals with both clinical signs and genetic mutations for FH have a markedly higher risk of developing CAD compared to those without these markers. Specifically, the odds of developing CAD are more than eleven times higher in individuals with both clinical signs and genetic mutations, even after adjusting for LDL cholesterol levels and other risk factors.
High serum uric acid (SUA) levels have been identified as a predictor for the development of high LDL cholesterol and hypertriglyceridemia. A study involving a five-year cohort of healthy Japanese adults found that elevated SUA levels were an independent risk factor for developing high LDL cholesterol. This association was observed in both men and women, suggesting that monitoring SUA levels could be important for predicting and managing high cholesterol.
High cholesterol is not only a risk factor for heart disease but also plays a role in the pathogenesis of multiple other diseases. Excess cholesterol accumulation can contribute to liver diseases, diabetes, chronic kidney disease, Alzheimer's disease, osteoporosis, osteoarthritis, and immune disorders. This broad impact underscores the importance of managing cholesterol levels to prevent a wide range of health issues.
Recognizing the signs of high cholesterol, such as tendon xanthomas and corneal arcus, and understanding the genetic and biochemical factors involved, is crucial for early diagnosis and management. Elevated serum uric acid levels can also serve as a predictive marker for high cholesterol. Given the extensive health implications of high cholesterol, proactive monitoring and management are essential to mitigate the risk of cardiovascular and other related diseases.
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