Journal of Jiroft University of Medical Sciences

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Introduction: Cardiovascular disease and stroke are the two major causes of about 25% mortality worldwide by the year 2030. The dependency of Hypercholesterolemia on these two factors has made it one of the most important contributors to early death associated with cardiovascular disease. Family Hypercholesterolemia (FH) is a predominant autosomal disease detected by the level of LDL in the blood plasma. Clinical diagnosis of this disease is based on clinical and family history, clinical findings, and high cholesterol concentration. More commonly, the single-gene causes of FH are the mutations in one of the three LDLR, APOB, and PSCK9 genes. About 90% of them are in the LDLR gene, and more than 1700 mutations have been identified in this gene.
Methods: In this study, the scientific and electronic databases including, NCBI, Science Direct, and Google Scholar were used. Authentic articles related to the topic also were used.
Results: This article reviews new findings on the most common genetic disease in the world, namely familial hypercholesterolemia, genetic causes of the disease, treatment, and clinical and molecular diagnosis of the disease.
Conclusion: Despite the high prevalence of familial hypercholesterolemia in the world, fortunately, the disease is detectable and can be treated. Early diagnosis of the disease can reduce the risk of cardiovascular disease and early death. Since clinical criteria may not identify all patients, it is better to use molecular diagnosis and genetic testing in screening strategies

Keywords: Familial hypercholesterolemia, Molecular diagnosis, cardiovascular disease

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