No abstract

Lipid metabolism disorders are an important part in the pathogenesis of cardiovascular diseases. There are genetic forms of dyslipidemia, so-called familial hypercholesterolemia. In this condition, the risk of morbidity and mortality from cardiovascular pathology increases many times. In 2021, an active work was begun in the Chuvash Republic to create a regional (Republican) register accumulating information about patients with lipid metabolism disorders. The authors were the first to attempt to identify individuals with a high probability of familial hypercholesterolemia among them, an analysis of clinical manifestations and ongoing therapy was carried out. The purpose of this work was to study the prevalence and clinical features of familial lipid metabolism disorders among residents of the Chuvash Republic. Materials and methods. For the purposes of the study out of 7838 persons with dyslipidemia documented during 2021, 100 persons aged 40 to 86 years were selected, the average age was 63.29±9.24 years, there were 26% men and 74% women with cholesterol levels of more than 7 mmol/l and/or triglycerides of more than 10 mmol/l, which was regarded as a probable hereditary familial hypercholesterolemia. Anthropometric data, anamnestic data, results of laboratory and instrumental studies were taken into account. For further analysis, the patients were divided into two groups based on their gender. Results. No differences were revealed between the groups in most of the analyzed clinical, laboratory and instrumental indicators. In women with probable familial hypercholesterolemia, obesity is twice more common than in men. Obese women were more likely to have a history of COVID-19 infection (Q = 0.53). Correlation and regression analysis showed that statins intake and coronary arterial stenosis are closely correlated – more than 50% (correlation coefficient Q = 0.55), however, the fact of lipid-lowering therapy has no strong connection with documented atherosclerosis of the lower extremities (Q = 0.06) and the carotid arteries (Q = 0.29). Conclusions. According to the Regional Register of the Chuvash Republic, women significantly predominate among people with suspected familial hypercholesterolemia, and they are older than men. Men are more likely than women to have a mixed type of hyperlipidemia and, consequently, a higher level of triglycerides. The conducted lipid-lowering therapy is insufficient in 86%, which is confirmed by the absence of a significant difference in the level of atherogenic lipids between patients receiving statins and patients not receiving them.

Primary amyloidosis is a disease with a complex and not fully understood pathogenesis, which is characterized by a wide range of clinical manifestations. Light chain amyloidosis is the most common form of systemic amyloidosis. At this, the heart is the dominant target organ in systemic amyloidosis. Cardiac amyloidosis (amyloid cardiomyopathy) is most often manifested by diastolic heart failure resulting from restrictive cardiomyopathy. Therapy of amyloid cardiopathy includes optimal treatment of heart failure and chemotherapy. To reduce the symptoms of heart failure, diuretics are the main means, since other pathogenetic agents cannot be used due to hypotension and a possible decrease in cardiac output. With the introduction of new medicinal products into clinical practice, such as the proteosome inhibitor Bortezomib, the prognosis for patients has improved. However, amyloidosis remains a difficult disease to diagnose and treat.