👤 Kushal C B

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

The giant cell tumor, in which BCL-2 gene was expressed only in its malignant transformation, is a benign, primary skeletal neoplasm with variable biologic aggressiveness. The is of the giant cell tumor. A coexistence with hereditary multiple exostosis with expression of EXT-1 is very rare. The correlation between giant cell tumor in hereditary multiple exostosis is still not clearly determined. A 31-years-old female presented with pain and lump on her left wrist and a coexistence of non tender multiple lump in the right and left knee. A wide excision of the tumor and reconstruction using non vascularized fibular graft was performed, followed by histopathology and immunohistochemistry of EXT-1 and BCL-2. In this case, the tumor showed negative BCL-2 and positive EXT-1 gene expression. Giant cell tumor and hereditary multiple exostosis also demonstrated associations of chromosomes 11 with a different pathological process. Giant cell tumor in hereditary multiple exostosis revealed positive EXT-1 without BCL-2 expression. It still need more investigation to confirm the relationship between these tumors. Show less