High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease

Taddei, Tamar H.; Dziura, James; Chen, Shu; Yang, Ruhua; Hyogo, Hideyuki; Sullards, Cameron; Cohen, David E.; Pastores, Gregory M.; Mistry, Pramod K.

doi:10.1007/s10545-010-9070-1

Cited by 48 publications

(43 citation statements)

References 46 publications

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“…Taddei et al investigated the frequency of gallbladder stones in 417 patients with type 1 Gaucher's and detected stones in 32% of patients. Also, they reported the prevalence of gallbladder stones in these patients to be five times higher than in the normal population (12). Our patient also had a 5 mm calculus inside the gallbladder, which was detected in all imaging studies.…”

Section: Discussionsupporting

confidence: 57%

A Comparison of Ultrasonography, Computerised Tomography, and Conventional MRI Findings for Splenic Nodules Associated with Type 1 Gaucher’s Disease with Diffusion-Weighted MRI Findings

Albayrak

Sönmezgöz

Özmen

et al. 2017

MJMS

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A 26-year-old female patient with Type 1 Gaucher's disease (GD) was admitted to our clinic with complaints of stomachache and signs of anemia. The patient underwent ultrasonography (US), computerised tomography (CT), and magnetic resonance imaging (MRI) scan. Imaging studies revealed massive hepatosplenomegaly, choledocolithiasis, and six nodules in the spleen with a mean size of 14 mm. The nodules appeared hyperechoic, hypoechoic, and of mixed echogenicity on the US and hypodense on the CT. While the nodules were observed to be iso-hypointense in T1-weighted (T1WI) images, they appeared to be hyperintense in the T2-weighted (T2WI) images. There were no diffusion restrictions in these nodules that appeared on the diffusion-weighted magnetic resonance imaging (DWI). A nodule located at the lower pole was observed to be hypointense in the T2WI images. The nodule located at the lower pole, which appeared hypointense in T2WI series, had restricted diffusion upon DWI.In this study, we aimed to present the properties of splenic GD nodules using US, CT, and conventional MRI, together with DWI. This case report is the first to apply US, CT, and conventional MRI, together with DWI, to the splenic nodules associated with Gaucher's disease.

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Section: Discussionsupporting

confidence: 57%

A Comparison of Ultrasonography, Computerised Tomography, and Conventional MRI Findings for Splenic Nodules Associated with Type 1 Gaucher’s Disease with Diffusion-Weighted MRI Findings

Albayrak

Sönmezgöz

Özmen

et al. 2017

MJMS

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“…Splenectomy has been associated with a higher risk of cholesterol gall stones, pulmonary complications including pulmonary hypertension, avascular necrosis of bone and iron overload states. [88][89][90][91] Neuronopathic disease-This is best managed by a pediatric Neurologist and specific drugs for myoclonus or epilepsy are needed.…”

Section: Cytopeniamentioning

confidence: 99%

Gaucher Disease

Nagral

2014

Journal of Clinical and Experimental Hepatology

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“…There are associated conditions that are truly independently sorting, whereas others, such as gallstones, 18,19 multiple myeloma, [20][21][22] or early-onset Parkinsonism, 23,24 are more prevalent in GD. Similarly, it is recommended to specifically query about Gaucher-like signs and symptoms, as well as of associated disorders, in first-degree relatives.…”

Section: Routine Follow-up Of Patientsmentioning

confidence: 99%

How I treat Gaucher disease

Zimran

2011

Blood

148

135

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This review presents a cohesive approach to treating patients with Gaucher disease. The spectrum of the clinical presentation of the disease is broad, yet heretofore there was only one diseasespecific treatment. In the past 2 years, a global shortage of this product has resulted in reassessment of the "one enzyme-one disease-one therapy" mantra. It has also showcased the multiple levels that engage the patient, the treating physician, and the third-party insurer in providing adequate treatment to all symptomatic patients. The key points summarizing the way I manage my patients include accurate enzymatic diagnosis with mutation analysis (for some prognostication and better carrier detection in the family), a detailed follow-up every 6-12 months (with an option to see consultants and attention to comorbidities), and initiation of enzyme replacement therapy according to symptoms or deterioration in clinically significant features or both. I do not treat patients with very mild disease, but I consider presymptomatic therapy for patients at risk, including young women with poor obstetric history. I prefer the minimal-effective dose rather than the maximally tolerated dose, and when the difference between high-dose and lower-dose regimens is (merely statistically significant but) clinically meaningless, minimizing the burden on society by advocating less-expensive treatments is ethically justified. (Blood. 2011;118(6): 1463-1471) IntroductionThe purpose of this review is to present a cohesive approach to treating patients with Gaucher disease (GD). As can be appreciated, the spectrum of the clinical presentation of the disease is broad, yet heretofore there was only one disease-specific treatment. In the past 2 years, a global shortage of this product has resulted in reassessment of the "one enzyme-one disease-one therapy" mantra. It has also showcased the multiple levels that engage the patient, the treating physician, and the third-party insurer, in providing adequate treatment for all symptomatic patients with GD. As a treating physician dedicated to GD even before the era of enzyme replacement therapy (ERT), my mandate and inspiration has always been to provide the best therapy with the least malfeasance. Description of GDGD is one of the most common glycolipid storage disorders, caused by an inherited deficiency of the lysosomal enzyme ␤-glucocerebrosidase, leading to accumulation of the substrate glucocerebroside in the cells of the macrophage-monocyte system. 1 Accordingly, key disease features are related to splenomegaly with hypersplenism, hepatomegaly, and bone involvement. Although a single-gene disorder, phenotypic expression is extremely variable, ranging from totally asymptomatic (only detectable by DNA analysis or enzyme deficiency) to a lethal newborn form with hydrops fetalis and ichthyosis. Many manifestations, some notuncommon and others very rare, cannot be explained by storage per se; examples include immunologic abnormalities, increased prevalence of certain malignancies with relative paucity of ...

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High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease

Cited by 48 publications

References 46 publications

A Comparison of Ultrasonography, Computerised Tomography, and Conventional MRI Findings for Splenic Nodules Associated with Type 1 Gaucher’s Disease with Diffusion-Weighted MRI Findings

A Comparison of Ultrasonography, Computerised Tomography, and Conventional MRI Findings for Splenic Nodules Associated with Type 1 Gaucher’s Disease with Diffusion-Weighted MRI Findings

Gaucher Disease

How I treat Gaucher disease

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