Gaucher disease: sonographic appearance of the spleen.

Hill, Suvimol; Reinig, J W; Barranger, J. A.; Fink, Jordan N.; Shawker, T H

doi:10.1148/radiology.160.3.3526400

Cited by 58 publications

(34 citation statements)

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“…The radiographic manifestations of type 1 Gaucher disease are well known [8,[16][17][18][19]. Data presented here reveal a similar distribution of abnormalities in patients with type 3 b Gaucher disease.…”

Section: Discussionsupporting

confidence: 72%

Radiographic findings in type 3 b Gaucher disease

et al. 1996

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The purpose of this paper is to describe the radiographic findings in type 3 b Gaucher disease, a chronic neuronopathic form of the illness with severe systemic manifestations. Between 1980 and 1985 17 consecutive patients were evaluated with radiography of the chest, long bones and spine, CT of the head and chest, abdominal sonography, and MRI of the head, abdomen and spine. Clinical manifestations were severe, and led to death from hepatic, pulmonary or cardiac failure in nine patients. Type 3 b Gaucher disease shares the same spectrum of radiographic findings observed in type 1 disease, but the systemic manifestations are more severe. Pulmonary infiltrates, thoracic lymph node enlargement, vertebral compression fractures and osteonecrosis of the long bones occur much more frequently in patients with type 3 b disease.

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Section: Discussionsupporting

confidence: 72%

Radiographic findings in type 3 b Gaucher disease

et al. 1996

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“…There were no changes in the numbers of lesions or their characteristics during the evaluation period in patients receiving enzyme treatment. The low percentage of splenic lesions noted contrasts with the finding of splenic lesions in 16 adult patients with Gaucher disease in a cohort of 49 patients (32.7 %) evaluated by sonography [7]. In these adults all lesions were multiple, with the majority being hypoechoic.…”

Section: Discussionmentioning

confidence: 58%

“…Therefore, it has been extrapolated that splenic lesions, although apparently uncorrelated with the severity of other disease parameters or genotype, may be part of the natural history of the disease in some patients and is correlated with degree of organomegaly or age [8]. On the other hand, no sonographic abnormalities were found in the livers of the 80 adult patients in that series [7], which is dissimilar to our current pediatric cohort and to the finding of 6 % hepatic lesions among 218 consecutive patients, adults, and children from our clinic [8].…”

Section: Discussionmentioning

confidence: 92%

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

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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“…The underlying cause of thrombocytopenia related to spleen size is unclear from this study, but may not necessarily involve only increased platelet destruction in the spleen. Other contributory factors may include a pooling effect where the enlarged spleen acts as a reservoir to take platelets out of the general circulation (Aster, 1966); and/or prolonged delay before the initiation of therapy leading to irreversible spleen changes, such as fibrosis (Lee, 1982;Hill et al, 1986;Iwanami et al, 1992) or changes in vascularization, which could prevent the therapeutic enzyme from reaching Gaucher cells (Pastores et al, 2004;Stein et al, 2010;Mistry et al, 2007;de Fost et al, 2008). A study has shown that focal lesions in the spleen are associated with suboptimal splenic and platelet responses to imiglucerase therapy (Stein et al, 2010).…”

Section: Figmentioning

confidence: 99%

Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4–5 years

et al. 2012

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SummaryThe characteristics of Gaucher disease (GD) associated with persistent thrombocytopenia despite imiglucerase enzyme therapy in type 1 GD (GD1) were investigated by retrospective analysis of International Collaborative Gaucher Group (ICGG) Registry data. The study involved 1016 GD1 patients with an intact spleen for whom date of diagnosis, therapy initiation, and platelet counts were known, and who received continuous imiglucerase therapy for 4 to 5 years. These patients were stratified by last platelet count: 120 9 10 9 /l (n = 772); 100 to <120 9 10 9 /l (n = 94); 80 to <100 9 10 9 /l (n = 80); and <80 9 10 9 /l (n = 70; 20 with <60 9 10 9 /l) and characterized by initial and cumulative average imiglucerase dose, body mass index, platelet count, anaemia, hepatomegaly, splenomegaly, and skeletal assessments at baseline and after 4-5 years of therapy. Statistically significant associations were found between persistent thrombocytopenia and baseline platelet count (<80 9 10 9 /l), splenomegaly, and anaemia (all P < 0·0001). After 4-5 years, statistically significant associations were found with splenomegaly (P < 0·0001), anaemia (P < 0·0001), white blood cell count (P = 0·049), hepatomegaly (P = 0·004) and bone pain (P = 0·035). Exponential platelet decay in relation to splenomegaly suggests that platelets increase only when spleen volume decreases substantially.

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Gaucher disease: sonographic appearance of the spleen.

Cited by 58 publications

References 0 publications

Radiographic findings in type 3 b Gaucher disease

Radiographic findings in type 3 b Gaucher disease

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

Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4–5 years

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