Comparison of Magnetic Resonance Imaging and Ultrasound in Evaluating Liver in Gaucher Patients

Glenn, DW; Thurston, D.; Garver, Paul; Beutler, Ernst

doi:10.1159/000204218

“…Abdominal US has been found to be an accurate tool for measuring organ volumes as shown when comparing the US index volume to the calculated volume of the liver by MRI [5], and of the spleen and liver by CT [6]. This is the first report of sonographic findings in a very large cohort of pediatric patients with Gaucher disease, both treated and untreated with ERT, that demonstrates the universal findings of organomegaly even among minimally affected patients, and adequately monitors reduction of hepatosplenomegaly with enzyme treatment.…”

Section: Discussionmentioning

confidence: 99%

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

Patlas

¹

,

Hadas‐Halpern

²

,

Abrahamov

³

et al. 2001

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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.

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“…Therefore, the universally available, inexpensive, completely non-invasive, as well as radiation-free abdominal sonography, has become a basic diagnostic tool for routine work-up as well as follow-up of all patients. With particular relevance to Gaucher disease, abdominal ultrasound has been found to be an accurate tool for measuring organ volumes as shown in comparisons of the ultrasound index volumes [9] to the calculated volume of the liver by magnetic resonance imaging (MRI) [10], and of the spleen and liver by computerized tomography (CT) (unpublished), and for detecting splenic or hepatic lesions [11]. Similarly, this accuracy has been used for staging of hematological malignancies [12].…”

Section: Discussionmentioning

confidence: 99%

Abdominal ultrasound findings mimicking hematological malignancies in a study of 218 gaucher patients

Neudorfer

¹

,

Hadas‐Halpern

²

,

Elstein

³

et al. 1997

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Gaucher disease, the most prevalent sphingolipidosis, generally presents with splenomegaly, anemia, and thrombocytopenia. Hence, hematologists are often the specialists involved in diagnosis and management of these patients. We present ultrasonographic characteristics in a cohort of 218 consecutive Gaucher patients evaluated in our clinic during the past 5 years. Our data emphasize the high prevalence of lesions mimicking hematological malignancies in Gaucher disease. One fifth of 184 non-splenectomized patients had intra-splenic lesions, 6% of all patients had similar lesions in the liver, and 32% of 34 splenectomized patients (but none of the other patients) had marked retroperitoneal or peri-portal lymphadenopathy.The presence of splenic lesions correlated with age and splenic size, but not with extent of bone involvement or genotype. Interestingly, they were not affected by reduction in splenomegaly following enzyme replacement therapy.The importance of these findings is to include Gaucher disease in the differential diagnosis of splenic or hepatic lesions, especially in Ashkenazi Jews. Conversely, they are relevant for follow-up of all Gaucher patients, including asymptomatic individuals, because of the reported increased incidence of hematological malignancies in Gaucher disease. Am. J. Hematol. 55:28-34, 1997.

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“…With particular relevance to Gaucher disease, abdominal ultrasound has been found to be an accurate tool for measuring organ volumes as shown in comparisons of the ultrasound index volumes [9] to the calculated volume of the liver by magnetic resonance imaging (MRI) [10], and of the spleen and liver by computerized tomography (CT) (unpublished), and for detecting splenic or hepatic lesions [11]. Therefore, the universally available, inexpensive, completely non-invasive, as well as radiation-free abdominal sonography, has become a basic diagnostic tool for routine work-up as well as follow-up of all patients.…”

Section: Discussionmentioning

confidence: 99%

Abdominal ultrasound findings mimicking hematological malignancies in a study of 218 gaucher patients

Neudorfer

¹

,

Hadas‐Halpern

²

,

Elstein

³

et al. 1997

View full text Add to dashboard Cite

Gaucher disease, the most prevalent sphingolipidosis, generally presents with splenomegaly, anemia, and thrombocytopenia. Hence, hematologists are often the specialists involved in diagnosis and management of these patients. We present ultrasonographic characteristics in a cohort of 218 consecutive Gaucher patients evaluated in our clinic during the past 5 years. Our data emphasize the high prevalence of lesions mimicking hematological malignancies in Gaucher disease. One fifth of 184 non-splenectomized patients had intra-splenic lesions, 6% of all patients had similar lesions in the liver, and 32% of 34 splenectomized patients (but none of the other patients) had marked retroperitoneal or peri-portal lymphadenopathy.The presence of splenic lesions correlated with age and splenic size, but not with extent of bone involvement or genotype. Interestingly, they were not affected by reduction in splenomegaly following enzyme replacement therapy.The importance of these findings is to include Gaucher disease in the differential diagnosis of splenic or hepatic lesions, especially in Ashkenazi Jews. Conversely, they are relevant for follow-up of all Gaucher patients, including asymptomatic individuals, because of the reported increased incidence of hematological malignancies in Gaucher disease. Am. J. Hematol. 55:28-34, 1997.

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Comparison of Magnetic Resonance Imaging and Ultrasound in Evaluating Liver in Gaucher Patients

Cited by 22 publications

References 1 publication

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

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

Abdominal ultrasound findings mimicking hematological malignancies in a study of 218 gaucher patients

Abdominal ultrasound findings mimicking hematological malignancies in a study of 218 gaucher patients

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