Acoustic radiation force impulse point shear wave elastography of the liver and spleen in patients with Gaucher disease type 1: Correlations with clinical data and markers of disease severity.

PURPOSE

To evaluate the feasibility of acoustic radiation force impulse point shear wave elastography (ARFI-pSWE) of the liver and spleen in patients with Gaucher disease type 1 (GD1), and to assess correlations between organ stiffness and clinico-radiologic data, particularly the GD1 Severity Scoring System (GD-DS3).

MATERIALS AND METHODS

We retrospectively evaluated the results of ARFI-pSWE as measures of liver and spleen stiffness in 57 patients with GD1. The feasibility of the method was assessed. Correlations between elastography data and clinical data related to the metabolic syndrome, laboratory tests, and GD1-related clinico-radiologic data (bone marrow burden score, GD-DS3) were assessed.

RESULTS

ARFI-pSWE provided reliable results (i.e. standard deviation <30% of the mean value between the measurements) in 50/57 patients. Significant liver fibrosis was present in 35/50 patients (70%). Liver stiffness significantly correlated with GD-DS3 score (p = .03), and number of fulfilled criteria of metabolic syndrome (p = .03). Spleen stiffness significantly correlated with age (p = .021), body mass index (p = .002), number of fulfilled criteria of metabolic syndrome (p = .02), and several laboratory parameters (alanine aminotransferase, gamma glutamyltranspeptidase, triglycerides, cholesterol), and nearly significantly with GD-DS3 score (p = .059).

CONCLUSION

ARFI-pSWE is a useful tool for a more detailed assessment of disease severity in patients with GD1, which adds relevant information to the standard clinical scores. Thus, elastography might allow for extended therapy monitoring, especially in patients with significant liver fibrosis. Spleen elastography showed promising results; thus, its role should be further investigated.