| Abstract [eng] |
Introduction: Familial hypercholesterolemia is a genetic disorder typically inherited in autosomal dominant way and is characterized by elevated total cholesterol and low-density lipoprotein cholesterol levels. It is known that elevated low-density lipoprotein cholesterol concentration is linked to increased risk of cardiovascular disease. Early diagnosis and treatment is very important as the familial hypercholesterolemia starts progressing in early childhood. Even though, this disease is common and is a major risk factor for a premature cardiovascular disease, it still remains underdiagnosed and undertreated. Purpose: The purpose of this study is to review latest scientific literature, to discuss the etiopathogenesis, prevalence, symptoms of familial hypercholesterolemia and to assess the importance of early diagnosis and treatment to prevent cardiovascular disease. Methods: In order to describe the etiopathogenesis, prevalence, symptoms, diagnostics and treatment of familial hypercholesterolemia, for search of articles and statistics the Medline (PubMed) database and the websites of the World Health Organization, the Institute of Hygiene and the State Medicines Control Agency of Lithuania were used. A total of 62 literature sources were included. A search of scientific literature for systematic literature review was performed using Medline (PubMed) database. The included studies were conducted on adults and published in English no more than 5 years ago. 6 publications that met the inclusion criteria were included in the systemic review. The Zotero bibliography management program was used to store the data. Results: Heterozygous familial hypercholesterolemia is usually inherited in autosomal dominant way due to the mutations in low-density lipoprotein receptor gene. It is estimated that 1 in 250 people have this form of disease, but it is believed that the prevalence may be even higher. Usually, familial hypercholesterolemia has no other symptoms besides elevated levels of low-density lipoprotein cholesterol and is diagnosed only due to advanced atherosclerosis and its complications. Dutch Lipid Clinic Network diagnostic criteria that includes personal history, family history, physical signs, low-density lipoprotein cholesterol levels and DNA analysis are used to diagnose this disease. Familial hypercholesterolemia is mostly treated with statins or statins with ezetimibe, but in patients who do not reach the recommended low-density lipoprotein cholesterol concentration targets, a PCSK9 inhibitor should be added. A systematic literature review revealed that all tested PCSK9 inhibitors lowered low-density lipoprotein cholesterol concentration at least 50 percent and that treatment with alirocumab lowered the risk of major adverse cardiovascular events by 15 percent. Conclusions: In order to prevent cardiovascular disease, an early diagnosis and treatment of familial hypercholesterolemia are essential but still remain insufficient due to the lack of clinical symptoms. The most informative and cost-effective diagnostic method is the determination of low-density lipoprotein cholesterol levels and for these reasons it should be performed routinely, even in children. Treatment with statins is usually insufficient; therefore, combination therapy with statins, ezetimibe, and, if necessary, PCSK9 inhibitors should be prescribed. |
