Spectrum of abdominal sonographic findings in 103 pediatric patients with Gaucher disease

Abstract

The purpose of this study was to catalogue spleen and liver features by US in a cohort of 103 pediatric patients with Gaucher disease, and to document response to enzyme replacement therapy by serial US examination. There were 42 boys and 61 girls, 2 were splenectomized. Forty-eight patients received enzyme replacement therapy (ERT). At presentation all patients evinced organomegaly and 4.9% had focal (splenic or hepatic) lesions (hypo- and hyper-echoic or mixed). Fifteen patients began ERT before 11 years of age. There was a mean liver volume reduction from 230 to 137% after 2 years of ERT, with further reduction of 91% up to 6 years later. Mean spleen volume reduction was 38.4% at 2 years of ERT and a further reduction to 40.8% at last evaluation. Fourteen children began ERT between ages 11 and 16 years. Mean liver reduction was from 230 to 124% at 2 years and further reduction to mean of 104% recently. Mean splenic reduction was 37.7% after 2 years of ERT, with a mean of 43.8% recently (mean 4.5 years later). Organ volume changes in untreated and treated children were documented by US which is the modality of choice for repeat measures in this population. Our results highlight the initial dramatic and then continued response to ERT in pediatric patients with Gaucher disease.

Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy

“…3) and splenic response to ERT, thus identifying FSL as an important determinant of responsiveness to ERT. In keeping with previous studies, we found these splenic lesions were associated with older age and extent of splenomegaly (Neudorfer et al 1997; Patlas et al 2002; Lee 1982; Hill et al 1986; Chippington et al 2008). A new finding in our study was that FSL were associated with a higher incidence of osteonecrosis.…”

“…The incidental finding of FSL in a patient not yet diagnosed with GD1 may lead to misdiagnosis of malignancy and inappropriate splenectomy (Neudorfer et al 1997). Previous studies using ultrasonography or MRI estimated the prevalence of FSL to be 4% (pediatric) (Patlas et al 2002) to 33% (adult) (Lee 1982) of GD1 patients. Frequency of FSL increases with age: for example, 12/23 (52%) patients aged >18 years had splenic lesions compared to only 2/13 (8.9%) patients <18 years (Hill et al 1992).…”

Gaucher Disease

“…Ultrasonography 54 CT scan or ideally MRI scan of the abdomen are used to determine liver and spleen volumes ( Figure 6). Focal accumulations of Gaucher cells "Gaucheromas" may be found in the liver or spleen.…”

Review of the safety and efficacy of imiglucerase treatment of Gaucher disease

“…At minimum, monitoring disease expression and effects of ERT includes serial evaluation of hematological parameters and reduction in hepatosplenomegaly. Although ultrasonography may be recommended for repeat assessments as the least invasive and as having no risk of radiation, 33 especially in children, 34 it is the least used because of issues of reliability and reproducibility and the importance of observer experience. Computed tomography (CT) was universally employed in the past, 35 and today, magnetic resonance imaging (MRI), 36 especially because of justifiable concerns about radiation with periodic assessments is preferred.…”