Doppler ultrasound study of portal hemodynamics in patients with Gaucher disease

Radmila Sarenac-Kovac,Mirjana Perisic,Sladjana Dimitrijevic,Vladimir Jurisic,Dragan Tomic

doi:10.2298/abs140505001s

Radmila Sarenac-Kovac, Mirjana Perisic + Show 3 more

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https://doi.org/10.2298/abs140505001s

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Abstract

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.

Highlights

Gaucher disease is a lysosomal storage disorder caused by mutations in the gene encoding acid glucocerebrosidase and, deficiency of the enzyme
There was a significant difference between patients with Gaucher disease and healthy controls (p
We found a higher incidence in our cohort women (1.5:1), which differed from the incidence reported in Kenya (1:1.25 in males). (Murila et al, 2008)

Summary

Introduction

Gaucher disease is a lysosomal storage disorder caused by mutations in the gene encoding acid glucocerebrosidase and, deficiency of the enzyme. The disease is characterized by the presence of pathological macrophages known as “Gaucher cells” laden with glucosylceramide. Gaucher cells infiltrate the spleen, liver and bone marrow. Patients with type 1 Gaucher disease (the non-neuronopathic, most common form) have distinct splenomegaly and mild hepatomegaly. Is a common manifestation of Gaucher disease, but symptomatic portal hypertension is rarely seen. Case reports of portal hypertension, with liver fibrosis and cirrhosis in patients with

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