Obesity is known to be related to the development of type 2 diabetes mellitus (T2D). The most commonly used anthropometric indicator (body mass index [BMI]) presents several limitations such as the lack of possibility to distinguish adipose tissue distribution. Thus, this study examines the suitability of a body shape index (ABSI) for prediction of body composition and sarcopenic obesity in obese or overweight T2D subjects. Cross-sectional study in 199 overweight/obese T2D adults. Anthropometric (BMI, ABSI) and body composition (fat mass [FM], fat-free mass [FFM], fat mass index [FMI] and fat-free mass index, and the ratio FM/FFM as an index of sarcopenic obesity) data was collected, as well as metabolic parameters (glycated haemoglobin [HbA1c], mean blood glucose, fasting plasma glucose [FPG], high-density-lipoprotein cholesterol [HDL], low-density-lipoprotein cholesterol, total cholesterol, and triglycerides [TG] levels; the ratio TG/HDL was also calculated as a surrogate marker for insulin resistance). ABSI was significantly associated with age and waist circumference. It showed a statistically significant correlation with BMI exclusively in women. Regarding body composition, in men, ABSI was associated with FM (%), while in women it was associated with both FM and FFM. Both males and females groups with high ABSI scores were significantly older (men: 59.3 ± 10.8 vs 54.6 ± 10.1, p ≤ 0.05; women: 65.1 ± 9.8 vs 58.1 ± 13.3, p ≤ 0.005) and showed lower FFM values (men: 62.3 ± 9.0 vs 66.2 ± 9.3, p ≤ 0.05; women: 48.7 ± 5.6 vs 54.5 ± 8.9, p ≤ 0.001) compared with low-ABSI groups. Multiple linear regression revealed that ABSI independently predict FMI and the FM/FFM ratio in women. Sarcopenic obesity was identified in 70 (36.5%) individuals according to the FM/FFM ratio. The AUROC of ABSI was 63.1% (95% CI 54.6–71.6%; p = 0.003) and an ABSI value of 0.083 m11/6 kg−2/3 was the optimal threshold in discriminating patients with sarcopenic obesity (sensitivity: 48%, specificity: 73%). Moreover, a significant association between ABSI and FPG was found in men. ABSI could be useful to identify visceral and sarcopenic obesity in overweight/obese adults with T2D, adding some relevant clinical information to traditional anthropometric measures.

Our aim was to determine whether rare APOE pathogenic variants (PV) and the common e2/e3/e4 polymorphism were associated with the risk of familial hypercholesterolemia (FH). A total of 431 patients who met the inclusion criteria for FH were next-generation sequenced for the main candidate genes (LDLR, APOB, PCSK9, APOE, LDLRAP1). A total of 139 patients (32%) had a pathogenic variant, including 3 with APOE p.Leu167del. Among the PV-negatives (n = 292), one was homozygous for APOE-e2 and showed a combined phenotype of high low-density lipoprotein cholesterol (LDL-C) and triglycerides (TGs). A total of 165 population controls were also genotyped for the APOE polymorphism. PV-negative patients showed a significantly higher frequency of APOE-e3e4/e4e4 compared to PV-positives (p = 0.006) and to population controls (p = 0.0002, OR = 2.63, 95% CI = 1.57–4.40). APOE-e4e4 patients had significantly higher mean LDL-C compared to the other genotypes (p = 0.047). In conclusion, APOE pathogenic variants were a rare cause of FH in our population, and the APOE-e4 allele was a significant risk factor for being diagnosed with familial hypercholesterolemia in the absence of a pathogenic variant involved in FH. In particular, the APOE-e4e4 genotype was associated with higher LDL-C levels compared to the other genotypes.