Yaroslav Kubkin

Pseudohypertriglyceridemia (pseudo-HTG) is a rare laboratory phenomenon in which serum triglyceride levels are falsely elevated due to analytical interference from endogenous glycerol, most often caused by glycerol kinase deficiency (GKD), an X-linked disorder caused by pathogenic variants in the GK gene. We report a 50-year-old man referred for persistent hypertriglyceridemia (4.98–7.42 mmol/L) over two years despite dietary modification and statin–fibrate therapy. He had no history of pancreatitis, alcohol intake, diabetes, renal or thyroid dysfunction. Physical examination showed no xanthomas or corneal arcus; body mass index was 26.9 kg/m². Serum samples were repeatedly visually clear, and lipoprotein electrophoresis revealed an unexpectedly normal lipid distribution. Given the discordance between triglyceride concentrations and the clinical and electrophoretic findings, pseudo-HTG due to GKD was suspected. Glycerol-specific biochemical testing was locally unavailable. Thus, we performed whole genome sequencing (WGS), which identified a likely pathogenic GK nonsense variant, c.1324C>T (p.Gln442Ter), consistent with isolated GKD. Peripheral atherosclerosis and hepatic steatosis were also noted, indicating coexisting cardiometabolic disease. This case highlights isolated GKD as an underrecognized cause of prominent treatment-refractory HTG. In patients with discordant triglyceride results, clear fasting serum, and normal lipoprotein electrophoresis, pseudo-HTG should be considered; genetic evaluation may be informative when glycerol-specific assays are unavailable.

Aim . To evaluate the contribution of polygenic risk scores to a short-term mortality prediction model in patients with dilated cardiomyopathy (DCM). M aterial and methods . The study included 137 patients with DCM. The mean age was 56,8±13,5 years; 115 (83,9%) were men. The median follow-up period was 17 [13; 22] months. During the follow-up period, 26 patients (19,0%) died. To identify predictors of short-term all-cause mortality, a classification tree model was constructed based on the chi-squared automatic interaction detection (CHAID) algorithm, supplemented by polygenic risk scores (PRS) for DCM and heart failure (HF). The model prognostic value was assessed using ROC analysis with area under the curve (AUC) calculation. R e sults . In the constructed model, the most significant predictors of short-term all-cause mortality were parenteral furosemide administration during the index hospitalization, high genetic risk according to the PGS005079 HF scale (cutoff value of 0,42), a ferritin level Conclusion . Short-term all-cause mortality prognosis in patients with dilated cardiomyopathy (DCM) is associated with the need for parenteral loop diuretics during the index hospitalization, decreased ferritin levels, a high genetic predisposition to heart failure (as assessed by the PGS005079 PGS), and signs of more severe heart failure decompensation involving the systemic circulation.