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

Area of Science:

• Hepatology and Gastroenterology
• Medical Imaging
• Biochemistry

Background:

• Gaucher disease (GD) lacks reliable early biochemical or imaging markers for tissue damage.
• Accurate assessment of GD progression and differentiation from other liver conditions is crucial.

Purpose of the Study:

• To investigate the utility of transient elastography (TE) and 2D shear wave elastography (SWE) in evaluating Gaucher disease.
• To assess if elastography can differentiate GD patients from healthy controls and those with liver cirrhosis.

Main Methods:

• The study involved 42 patients with Gaucher disease type I, 33 with liver cirrhosis, and 22 healthy volunteers.
• Ultrasound and Doppler examinations were performed, followed by TE and SWE measurements of spleen and liver stiffness.
• Statistical analysis was used to compare stiffness values across groups.

Main Results:

• Spleen stiffness was significantly higher in GD patients (TE: 35KPa, SWE: 22KPa) compared to healthy controls (16.95KPa, 17.5KPa) and cirrhotic patients (45KPa, 34.5KPa).
• Liver stiffness was slightly elevated in GD patients (TE: 7.1KPa, SWE: 7KPa) but significantly lower than in cirrhotic patients (24.2KPa, 21KPa).
• Both TE and SWE demonstrated statistically significant differences in spleen stiffness across all groups (p<0.0001).

Conclusions:

• Transient elastography and shear wave elastography are promising noninvasive tools for Gaucher disease evaluation.
• These elastography techniques can effectively differentiate GD patients from healthy individuals.
• Elastography can also distinguish Gaucher disease patients with splenomegaly from those with liver cirrhosis.