👤 Jaimini Cegla

Lipoprotein(a) [Lp(a)] is an independent risk factor for atherosclerotic cardiovascular disease. Although Lp(a) levels are generally stable, the extent of intraindividual variation and the need for repeat Lp(a) testing remain unclear. To evaluate the intraindividual variation in Lp(a) levels assess the clinical impact of repeat testing on cardiovascular risk classification. This retrospective study analyzed 250 patients from a tertiary care lipid clinic with ≥2 Lp(a) measurements over a mean of 17.1 ± 15.5 months. Baseline levels were positively skewed (median of 56.0 nmol/L; interquartile range 21.0-154.3 nmol/L). Intraindividual coefficients of variation (CV) were 19.0% (mean-based) and 33.6% (log-transformed), exceeding the European Federation of Clinical Chemistry and Laboratory Medicine database CV (10.2%; 4.3%-26.7%). Cardiovascular risk reclassification occurred for 12.4% using the National Lipid Association thresholds (75 and 125 nmol/L) and 6.8% using the European Society of Cardiology threshold (105 nmol/L). Variability was not associated with time between measurements, medications, or biochemical parameters on multivariable analysis. Hence, repeat Lp(a) testing is generally unnecessary but could be considered in those near risk thresholds or those being evaluated for Lp(a)-lowering therapies. Show less

Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder. This study aimed to analyze the genotype distribution of FCS-causing genes in the United Kingdom. Data were anonymously collated from 2 genetic testing laboratories providing national genetic diagnosis services for severe hypertriglyceridemia in the United Kingdom. As of December 2023, 880 individuals underwent genetic testing for FCS. The mean (SD) age at the time of genetic testing was 42.5 (15.3) years. After genotyping, 12.9% of the individuals ( The genetic architecture of FCS in the United Kingdom is complex, with a substantial proportion affected by non- Show less