Arch. Biol. Sci., Belgrade, 67 (1), 11-18, 2015 DOI:10.2298/ABS140505001S 11 DOPPLER ULTRASOUND STUDY OF PORTAL HEMODYNAMICS IN PATIENTS WITH GAUCHER DISEASE Radmila Šarenac-Kovač 1 , Mirjana Perišić 1 , Dragan Tomić 2 , Slađana Dimitrijević 3 and Vladimir Jurišić 4,* 1 Clinic of Gastroenterology and Hepatology, Clinical Center of Serbia, Belgrade, Serbia 2 University of Belgrade, Faculty of Medicine, Belgrade, Serbia 3 University of Kragujevac, Faculty of Science, Kragujevac, Serbia 4 University of Kragujevac, Faculty of Medical Science, Kragujevac, Serbia * Corresponding author: vdvd@mailcity.com Abstract – Gaucher disease is a lysosomal storage disorder caused by a defciency of the enzyme glucocerebrosidase and characterized by the presence of pathological macrophages laden with glucosylceramide. Hepatosplenomegaly is a com- mon manifestation of Gaucher disease, but symptomatic portal hypertension is rarely seen. Te study included 20 un- treated 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. Te 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 signifcantly larger than those in the healthy controls (liver: 17.04 vs.14.02 cm; spleen: 22.2 vs. 10.74 cm). DPI values were signifcantly diferent 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 efects on the blood vessels of the liver and spleen. Keywords: Gaucher disease; Doppler ultrasonography; portal fow velocity Received May 5, 2014; Revised December 10, 2014; Accepted December 12, 2014 INTRODUCTION Gaucher disease is a lysosomal storage disorder caused by mutations in the gene encoding acid glucocerebrosidase and, consequently, defciency of the enzyme. Te disease is characterized by the presence of pathological macrophages also known as “Gaucher cells” laden with glucosylceramide. Gaucher cells infltrate the spleen, liver and bone marrow. Patients with type 1 Gaucher disease (the non-neuronopathic, most common form) have dis- tinct splenomegaly and mild hepatomegaly. Hepat- osplenomegaly is a common manifestation of Gau- cher disease, but symptomatic portal hypertension is rarely seen. Case reports of portal hypertension, with liver fbrosis and cirrhosis in patients with