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Gaucher disease is a lysosomal storage disorder caused by a deficiency of the   enzyme glucocerebrosidase and characterized by the presence of pathological   macrophages laden with glucosylceramide. Hepatosplenomegaly is a common   manifestation of Gaucher disease, but symptomatic portal hypertension is   rarely seen. The study included 20 untreated adult patients with Gaucher   disease (non-neuronopathic type 1) diagnosed with the presence of Gaucher   cells in the bone marrow, and 20 healthy subjects as controls. The   examination of patients included color Doppler ultrasonography (pulsed   Doppler mode), resistive index (RI) and Doppler perfusion index (DPI) using a   Toshiba Xario ultrasound machine and a convex array probe PVT-375AX (1.9-6   MHz) with the objective of analyzing portal hemodynamics. Results showed that   all patients had enlarged liver and spleen, and their average sizes were   significantly larger than those in the healthy controls (liver: 17.04   vs.14.02 cm; spleen: 22.2 vs. 10.74 cm). DPI values were significantly   different between patients and controls (0.15 vs. 0.21). Considering DPI   <0.15 indicates arterial liver hypoperfusion and hypoxia, it can be concluded   that a number of patients had a problem with liver oxygenation, which may be   linked to the high angiotensin-converting enzyme (ACE) levels obtained in the   patients (339.42 U/L), 10 times greater than in control subjects. Since ACE   is a potent vasoconstrictor produced by spleen macrophages in Gaucher   disease, we can suppose that elevated ACE is associated with effects on the   blood vessels of the liver and spleen. [Projekat Ministarstva nauke Republike   Srbije, br. 175056

Doppler ultrasound study of portal hemodynamics in patients with Gaucher disease