Chronic visceral acid sphingomyelinase deficiency Paving the way to biomarker development

Acid sphingomyelinase deficiency (ASMD) is rare lysosomal storage disease in which sphingomyelin accumulates due to deficiency of the enzyme acid sphingomyelinase. ASMD covers a broad clinical spectrum with varying degrees of severity of which the chronic visceral subtype is the least severe. The most common manifestations of chronic visceral ASMD are hepatosplenomegaly and decreased diffusion capacity. Treatment in the form of enzyme replacement therapy (ERT) has recently become available. The aim of this thesis was to evaluate the current insights regarding imaging and biochemical markers of visceral ASMD manifestations, to use these insights to formulate recommendations for initiation of ERT and to investigate potential new markers for visceral manifestations of ASMD.