Elevated lipoprotein(a) [Lp(a)] levels are associated with increased cardiovascular risk and have been implicated in various inflammatory conditions. However, evidence regarding the role of Lp(a) in p Show more
Elevated lipoprotein(a) [Lp(a)] levels are associated with increased cardiovascular risk and have been implicated in various inflammatory conditions. However, evidence regarding the role of Lp(a) in patients with inflammatory bowel disease (IBD) remains limited. This study aimed to evaluate Lp(a) levels in a group of patients with IBD. A cross-sectional study was conducted involving patients with IBD actively followed by a multidisciplinary team. As part of routine care, patients with cardiovascular risk factors were systematically referred for comprehensive cardiology evaluation. For comparison, a control group matched for age and sex in a 2:1 ratio was randomly selected from the hospital database. Seventy-eight patients with IBD and 156 controls (mean age 56.1 years; 59% male) were included. Among patients with IBD, 56.4% had ulcerative colitis and 43.6% Crohn's disease. The IBD group showed a non-significant trend toward higher Lp(a) levels compared to controls (median [IQR]: 19.1 [5.9-71.3] vs. 17.5 [7.0-39.0]mg/dL; p=0.274). A significantly greater proportion of IBD patients had high-risk Lp(a) levels (>50mg/dL) than controls (35.9% vs. 19.2%; p=0.02). Additionally, IBD patients with Lp(a)>50mg/dL exhibited a non-significant trend toward higher inflammatory marker values. A substantial proportion of IBD patients exhibited elevated Lp(a) levels. Given its inflammatory, prothrombotic, and proatherogenic properties, Lp(a) may contribute to the increased cardiovascular risk observed in this population. Show less
Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other Show more
Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, and neurological features. The condition is genetically heterogeneous, and eight genes (BBS1-BBS8) have been identified to date. A mutation of the BBS1 gene on chromosome 11q13 is observed in 30%-40% of BBS cases. In addition, a complex triallelic inheritance has been established in this disorder--that is, in some families, three mutations at two BBS loci are necessary for the disease to be expressed. The clinical features of BBS that can be observed at birth are polydactyly, kidney anomaly, hepatic fibrosis, and genital and heart malformations. Interestingly, polydactyly, cystic kidneys, and liver anomalies (hepatic fibrosis with bile-duct proliferation) are also observed in Meckel syndrome, along with occipital encephalocele. Therefore, we decided to sequence the eight BBS genes in a series of 13 antenatal cases presenting with cystic kidneys and polydactyly and/or hepatic fibrosis but no encephalocele. These fetuses were mostly diagnosed as having Meckel or "Meckel-like" syndrome. In six cases, we identified a recessive mutation in a BBS gene (three in BBS2, two in BBS4, and one in BBS6). We found a heterozygous BBS6 mutation in three additional cases. No BBS1, BBS3, BBS5, BBS7, or BBS8 mutations were identified in our series. These results suggest that the antenatal presentation of BBS may mimic Meckel syndrome. Show less