Exposing Key Features on Familial Chylomicronemia Syndrome
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DOI:
https://doi.org/10.58372/2835-6276.1258Keywords:
Genetics, Lipids, Pancreatitis, Rare disease, TrygliceridesAbstract
Severe hypertriglyceridemia and familial chylomicronemia syndrome are lipid disorders associated with significant cardiovascular and metabolic risks. The American Congress of Cardiology 2024 highlighted transformative developments in understanding and managing these conditions. Novel therapeutic strategies, particularly targeting genetic and molecular pathways, have emerged, offering hope for improved patient outcomes. This article emphasizes the advancements in pharmacological treatments, diagnostic technologies, and multidisciplinary care approaches. Additionally, the article explores the interplay of genetic, environmental, and secondary factors in hypertriglyceridemia, integrating insights into the clinical differentiation and management of familial chylomicronemia syndrome and multifactorial severe hypertriglyceridemia.
References
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Blanco Echevarría A, Ariza Corbo MJ, Muñiz-Grijalvo O, Díaz-Díaz JL. Familial chylomicronemia: new perspectives. Clin Investig Arterioscler. 2024;36 Suppl 2: S18-S24. doi: 10.1016/j.arteri.2024.10.006
Heath O, Allender B, Smith J, et al. Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis. JIMD Rep. 2024;65(4): 239-248. doi: 10.1002/jmd2.12434
Stroes ESG, Alexander VJ, Karwatowska-Prokopczuk E, et al. Olezarsen, acute pancreatitis, and familial chylomicronemia syndrome. N Engl J Med. 2024;390(19): 1781-1792. doi: 10.1056/NEJMoa2400201
Packard CJ, Pirillo A, Tsimikas S, Ference BA, Catapano AL. Exploring apolipoprotein C-III: pathophysiological and pharmacological relevance. Cardiovasc Res. 2024;119(18): 2843-2857. doi: 10.1093/cvr/cvad177
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