In familial chylomicronemia syndrome (FCS), a rare lipid disorder, triglycerides rise to extremely high levels because of the inability to utilize lipoprotein lipase (LPL) for fat metabolism. Traditio Show more
In familial chylomicronemia syndrome (FCS), a rare lipid disorder, triglycerides rise to extremely high levels because of the inability to utilize lipoprotein lipase (LPL) for fat metabolism. Traditional triglyceride-lowering medications are ineffective, leaving patients dependent on strict low-fat diets. This review examines emerging non-LPL-based therapies for FCS. This narrative review assessed therapeutic strategies targeting key regulators of triglyceride metabolism, including apolipoprotein C-III (APOC3) and angiopoietin-like protein 3 (ANGPTL3), in both animal and human studies. Investigational approaches included monoclonal antibodies, RNA-based therapies, gene therapy modalities, genome editing platforms, and plasmapheresis. Olezarsen effectively lowers triglycerides with greater safety than older options. Other agents, such as ANGPTL3 inhibitors and RNA interference therapies, also reduce lipids and provide additional treatment options. Gene therapy and clustered regularly interspaced short palindromic repeats (CRISPR)-associated protein 9 approaches are expected to become available in the near future, while plasmapheresis remains an intervention for acute pancreatitis. Innovative therapies targeting APOC3, ANGPTL3, or liver-specific genes are transforming the management of FCS. These advances not only address this rare disorder but also offer insights into treating triglyceride-related cardiovascular risk and lipid abnormalities. Although some uncertainties remain, the outlook for FCS therapy appears highly promising. Show less
17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency is a rare autosomal recessive disorder that impairs testosterone synthesis, leading to undervirilisation in 46,XY individuals. An individu Show more
17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency is a rare autosomal recessive disorder that impairs testosterone synthesis, leading to undervirilisation in 46,XY individuals. An individual in their early 20s, raised as female, developed male secondary sexual characteristics at puberty. Evaluation revealed a 46,XY karyotype. Hormonal and genetic analyses confirmed the diagnosis of 17β-HSD3 deficiency, showing the homozygous Show less
Multiple sclerosis is an autoimmune neurodegenerative disease of the CNS that causes progressive disabilities, owing to CNS axon degeneration as a late result of demyelination. In the search for the p Show more
Multiple sclerosis is an autoimmune neurodegenerative disease of the CNS that causes progressive disabilities, owing to CNS axon degeneration as a late result of demyelination. In the search for the prevention of axonal loss, mitigating inflammatory attacks in the CNS and myelin restoration are two possible approaches. As a result, therapies that target diverse signaling pathways involved in neuroprotection and remyelination have the potential to overcome the challenges in the development of multiple sclerosis treatments. LINGO1 (Leucine rich repeat and Immunoglobulin domain containing, Nogo receptor- interaction protein), AKT/PIP3/mTOR, Notch, Wnt, RXR (Retinoid X receptor gamma), and Nrf2 (nuclear factor erythroid 2-related factor 2) signaling pathways are highlighted in this section. This article reviews the present knowledge regarding numerous signaling pathways and their functions in regulating remyelination in multiple sclerosis pathogenesis. These pathways are potential biomarkers and therapeutic targets in MS. Show less