Abstract
Familial hypercholesterolemia (FH) is one of the most prevalent genetic disorders leading to premature atherosclerosis and coronary heart disease. The main cause of FH is a mutation in the LDL-receptor gene that leads to loss of function of these receptors causing high levels of blood cholesterol. The diagnosis of FH is not very easy. Wide screenings are needed to reveal high levels of LDL cholesterol among “healthy” population. If the patient has MI or stroke at an early age, high levels of LDL cholesterol, and tendon xanthomas, the diagnosis of FH becomes much more clear. Genetic testing is a gold standard in the diagnosis of FH. There are several factors, influencing the time course of FH. Smoking males with low levels of HDL cholesterol have an extremely higher risk of death than nonsmoking females with high HDL cholesterol. Management of FH includes low cholesterol diet, statin and ezetimibe treatment, PCSK inhibitors, and LDL aphaeresis. Early and effective treatment influences much the prognosis in FH patients.
Reference26 articles.
1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, et al., editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001. pp. 2863-2913
2. Bredie SJ, Kiemeney LA, de Haan AF, et al. Inherited susceptibility determines the distribution of dense low-density lipoprotein subfraction profiles in familial combined hyperlipidemia. American Journal of Human Genetics. 1996;58:812-822
3. Goldstein JL, Brown MS. Familial hypercholesterolemia: Identification of a defect in the regulation of 3-hydroxy-3methylglutaril coenzyme A reductase activity associated with overproduction of cholesterol. Proceedings of the National Academy of Sciences of the United States of America. 1973;70(10):2804-2808
4. Brown MS, Goldstein GL. Familial hypercholesterolemia: Defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaril coenzyme A reductase activity. Proceedings of the National Academy of Sciences of the United States of America. 1974;71(3):788-792
5. Cuchel M et al. Homozygous familial hypercholesterolemia: New insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolemia of the European Atherosclerosis Society. European Heart Journal. 2014;35(32):2146-2157