Hipercolesterolemia família: fator de risco para desenvolvimento de doença arterial coronariana

Abstract

Familial hypercholesterolemia is a disorder in the lipid metabolism which accumulates the LDL cholesterol in the blood circulation. Mutations are related on the LDL receptor, apolipoprotein B100 and in serine protease PCSK9. The main complication of elevated levels of LDL cholesterol is the development of atherosclerotic plaques which is associated with the acute coronary syndrome. Therefore, the present study aims at understanding the development mechanism of familial hypercholesterolemia, analyze the possible ways of diagnosis and treatment, besides the comprehension of monitoring methods. In this regard, as research method were used articles, dissertations, and thesis about the theme (literature review) between 2010 and 2018. At that, it was analyzed that mutations are one of the main causes that obstruct the LDL cholesterol of being internalized by cells, resulting on plaques in the bloodstream. The diagnostic takes as consideration the serum elevation of the LDL cholesterol, family background and the clinical signs of the patient, and also the genetic test as the final confirmation of the familial hypercholesterolemia. The therapeutic measures adopted consist in association with lifestyle habits, changes in diet, physical activity, and lipidlowering medications. Based on the high occurrence of familial hypercholesterolemia, characterized by studies analyzed, and the development of precocious atherosclerotic disease, is important to rise for awareness about the risks of the disease for the population and healthcare professionals, and also the importance of early treatment and prevention of the development of coronary artery diseases.