SOCIAL SIGNIFICANCE OF FAMILIAL HYPERCHOLESTEROLEMIA
Journal Title: Българско списание за обществено здраве (Bulgarian Journal of Public Health) - Year 2018, Vol 0, Issue 4
Abstract
Cardiovascular diseases are the most common debilitating condition worldwide. In the European Union, ischemic heart disease (a type of CVD due to atherosclerosis) remains the most common cause of death, causing approximately 1.8 million deaths (20% of all deaths) per year in Europe. Elevated LDL-C, the main component of total cholesterol, plays an important role in the development of atherosclerotic plaques and is the major cause of increased CV risk. Large-scale epidemiological studies have shown that elevated LDL-C levels are a major mechanism of the cardiovascular (CV) risk, demonstrating a direct connection between LDL-C levels and the incidence of a newly emerged IHD and IHD-related events, including death. FH is a hereditary disease caused by a variety of genetic mutations leading to significantly elevated LDL-C levels and resulting in 20-times higher lifelong risk of a premature CVD. Patients with FH may have several symptoms and risk factors, including family history of premature IHD, presence of early IHD as a separate case; elevated LDL-C levels; tendon xanthomas (cholesterol-rich deposits in the tendons of the hands, feet and heels); and corneal arc (lipid deposits on the cornea). There are 2 genetic options of FH: one is caused by the inheritance of the FH gene from one of the parents (HeFH) and the other is caused by the inheritance of the gene from the two parents (HoFH). HoFH is an extremely rare disease affecting approximately 1 in 1 million people worldwide and is therefore considered an extremely rare indication (orphan). By contrast, the calculated HeFH prevalence is 1 in 500 people worldwide. In patients with untreated FH, the risk of premature IHD is about 20 times higher. Untreated male patients have a 50% risk of a coronary event up to 50 years of age; untreated women have a 30% risk of a coronary event up to 60 years of age. As a result, FH patients need the most intense lipid-modifying treatment that they can tolerate in reasonable limits.
Authors and Affiliations
Svetoslav Tsenov, Evgeni Grigorov, Plamen Dimitrov
Keywords
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