Article
Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals.
Hepatology communications - 1 Jan 2025
Mistry Pramod K, Cassiman David, Jones Simon A, Lachmann Robin, Lukina Elena, Prada Carlos E, Wasserstein Melissa P, Thurberg Beth L, Foster Meredith C, Patel Reema M, Underhill Lisa H, Peterschmitt M Judith
Abstract excerpt
BACKGROUND: Acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are rare inherited sphingolipid disorders with multisystemic manifestations, including liver disease and dyslipidemia. Despite effective treatments, insufficient disease awareness frequently results in diagnostic delays during which irreversible complications occur. We delineated the shared and distinctive features of hepatic,...
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