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.

It is known that metabolic disorders of uric acid (UA), in particular hyperuricemia (HU), are associated with vascular complications of type 2 diabetes mellitus (DM 2). Previously, the authors established a relationship between the I/D polymorphism of the angiotensin-converting enzyme (ACE) gene and vascular lesions in patients with DM 2 living in Chuvashia. It was of interest to find out how the I/D polymorphism of the ACE gene and metabolic disorders of MC in patients with diabetes mellitus 2 (residents of Chuvashia) are related. ACE gene polymorphism was determined by the I/D polymerase reaction method in 104 patients with diabetes mellitus 2, in 46 of whom UA metabolism was studied in depth. The UA was determined spectrophotometrically in the blood and in daily urine, and the total and fractional renal clearance of the UA was calculated. There were no significant differences in the parameters of UA metabolism depending on the I/D polymorphism. A steady tendency towards a decrease in renal UA clearance was established in the DD genotype. In patients with the DD genotype in comparison with carriers of the I allele (genotypes ID and DD), a lower mean value of UA clearance was recorded (M 10.0, Me 8.4 ml/min versus M 12.4, Me 11.7 ml/min; Z=1.1, p=0.28) and a higher prevalence of its low (<9 ml/min) values: 60% (9 out of 15) versus 34.6% (9 out of 26) (χ2=2, 18, p=0.14). It should be assumed that with an increase in the number of examined patients, the relationship of the DD genotype with a reduced UA clearance will acquire statistical significance. With the DD genotype, according to many authors, the maximum ACE activity is rectified. The authors suggest that an increase in ACE activity contributes to a decrease in UA transit through the kidneys in the DD genotype