Are transient and shear wave elastography useful tools in Gaucher disease?

Up to now, there are no reliable biochemical markers or imaging that could reveal early tissue damage in Gaucher disease. Therefore, we addressed whether elastography technique can serve as a tool for evaluating patients with Gaucher disease. The study included 42 patients with Gaucher disease type I and 33 patients with liver cirrhosis as well as 22 healthy volunteers. Ultrasound and Doppler examination was performed on each participant prior to apply transient and 2D shear wave elastography. In Gaucher disease the median stiffness of the spleen as assessed by transient elastography (TE) and shear wave elastography (SWE) was 35 KPa and 22 KPa respectively in contrast to the median stiffness of healthy controls (16.95 and 17.5 KPa, p = 0.0028 and p = 0.0002, respectively) and of patients with cirrhosis (45 KPa and 34.5 KPa, p = 0.015 and p < 0.0001 respectively). The liver stiffness in GD as measured by TE and SWE had median values of 7.1 KPa and 7 KPa respectively, slightly higher than in the healthy controls, but much smaller than for the cirrhotic patients (medians of 24.2 KPa and 21 KPa). In conclusion, a transient and shear wave elastography show a significant promise as noninvasive and reproducible tools to differentiate Gaucher disease from healthy controls and among those with splenomegaly from cirrhotic patients.