Thelansis

 Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder caused by mutations in the lipoprotein lipase gene, leading to hypertriglyceridemia and chylomicron accumulation in plasma. High triglycerides can result in complications like acute pancreatitis. FCS is also known as Lipoprotein lipase deficiency (LPLD), Type 1 hyperlipoproteinemia, and Endogenous hypertriglyceridemia. Diagnosis is based on fasting triglyceride levels exceeding 750 mg/dL and can be confirmed through genetic testing. Symptoms can emerge in infancy, childhood, or adolescence, with some patients remaining asymptomatic until adulthood. Common signs include Lipemia Retinalis (milky appearance in retinal veins), eruptive xanthomas (skin bumps with fatty deposits), abdominal pain, milky blood, and pancreatitis. Repeated pancreatitis is a severe complication that can lead to long-term pancreatic dysfunction and potential fatality if left untreated. FCS patients face a higher risk of pancreatiti...

 Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder caused by mutations in lipoprotein lipase. The mutations result in the accumulation of chylomicrons in plasma and hypertriglyceridemia. Elevated triglyceride levels further cause several complications, such as acute pancreatitis. FCS has been called different names. Some commonly used synonyms for FCS include Lipoprotein lipase deficiency (LPLD), Type 1 hyperlipoproteinemia, and Endogenous hypertriglyceridemia. ·        FCS is diagnosed based on fasting triglyceride levels above or 750 mg/dL (8.5 mmol/L). The diagnosis of FCS can also be confirmed through genetic testing for mutations in the gene that encodes lipoprotein lipase (LPL). ·        Familial Chylomicronemia Syndrome (FCS) is estimated to occur in 1 in 1 to 2 million people as per Thelansis’ research which encompasses both the secondary and primary research findings. FCS affects a...