Marlone Cunha-Silva, Eloy Vianey Carvalho de França, Clauber Teles Veiga, Raquel Dias Greca, Priscilla Brito Sena de Moraes, Daniel Ferraz de Campos Mazo, Elaine Cristina de Ataíde, Simone Reges Perales, Leonardo Trevizan Monici, Tiago Sevá-Pereira
RATIONALE: Lysosomal acid lipase deficiency (LAL-D) is a poorly diagnosed genetic disorder characterized by the accumulation of cholesteryl esters and triglycerides in many tissues, leading to dyslipidemia and cardiovascular complications. In the liver, deposits are found within hepatocytes and Kupffer cells, generating microvesicular steatosis, progressive fibrosis, and cirrhosis. Sebelipase alfa is the target therapy which can improve laboratory changes and reduce the progression of liver damage, but this is not yet widely available...
September 2, 2022: Medicine (Baltimore)