Using the International Gaucher Disease Registry data: Can we devise a virtuous circle for treated patients?

Elstein, Deborah; Zimran, Ari

doi:10.1002/ajh.21306

Cited by 4 publications

(3 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In our very recent editorial [53] commenting on two ICGG registry articles by Weinreb et al [54,55], we (DE and AZ) noted with concern that life expectancy of patients with Gaucher disease was decreased; moreover, we were rather surprised that the most prevalent causes of mortality as derived from registry data were not necessarily those classically attributed to the impact of the glycolipid storage and/ or complications of Gaucher disease, but rather to malignancy (17/63), and cardiovascular (11/63) and cerebrovascular (8/63) events [55]. This was an apparently different causality than those reported in 1982 by Lee [56] based on postmortem examinations of patients with Gaucher disease that were associated with infections and bleeding in addition to malignancies but not with cardiovascular or cerebral events.…”

mentioning

confidence: 97%

Enzyme replacement therapy for mild patients with Gaucher disease

2009

Self Cite

View full text Add to dashboard Cite

mentioning

confidence: 97%

Enzyme replacement therapy for mild patients with Gaucher disease

2009

Self Cite

View full text Add to dashboard Cite

“…A second recombinant human enzyme replacement therapy, velaglucerase-alfa (VPRIV) (Shire Human Genetic Therapies, Dublin, Ireland)6,7 was approved in 2010, and a third, taliglucerase-alfa (Elelyso™, Protalix, Carmiel, Israel) which is a plant cell-expressed acid β-glucocerebrosidase, was approved in the United States and other countries in 2012 8,9…”

Section: Introductionmentioning

confidence: 99%

Hemorrhagic Aspects of Gaucher Disease

Rosenbaum

2014

Rambam Maimonides Med J

View full text Add to dashboard Cite

Gaucher disease (GD) is an inherited lysosomal disorder, originating from deficient activity of the lysosomal enzyme glucocerebrosidase (GCase). Normally, GCase hydrolyzes glucocerebroside (GC) to glucose and ceramide; however, impaired activity of this enzyme leads to the accumulation of GC in macrophages, termed “Gaucher cells.” Gaucher disease is associated with hepatosplenomegaly, cytopenias, skeletal complications and in some forms involves the central nervous system.Coagulation abnormalities are common among GD patients due to impaired production and chronic consumption of coagulation factors. Bleeding phenomena are variable (as are other symptoms of GD) and include mucosal and surgical hemorrhages.Four main etiological factors account for the hemostatic defect in GD: thrombocytopenia, abnormal platelet function, reduced production of coagulation factors, and activation of fibrinolysis. Thrombocytopenia relates not only to hypersplenism and decreased megakaryopoiesis by the infiltrated bone marrow but also to immune thrombocytopenia. Autoimmunity, especially the induction of platelet antibody production, might cause persistent thrombocytopenia.Enzyme replacement therapy reverses only part of the impaired coagulation system in Gaucher disease. Other therapeutic and supportive measures should be considered to prevent and/or treat bleeding in GD.Gaucher patients should be evaluated routinely for coagulation abnormalities especially prior to surgery and dental and obstetric procedures.

show abstract

“…For all lysosomal storage disorders, for which an enzyme replacement therapy is available, a registry has been set up, in which the clinical and laboratory data from all treated (and untreated) patients are being entered [2][3][4]. The Villa Metabolica was and is still involved in the development and continuous maintenance of these projects, amongst others by the membership in several working groups and advisory boards.…”

mentioning

confidence: 99%

Villa Metabolica – a center of excellence for the diagnosis and treatment of lysosomal storage disorders

Beck¹

2010

Wien Med Wochenschr

View full text Add to dashboard Cite

Lysosomal storage disorders are very rare diseases that are characterized by a great variability in their clinical presentation. In order to gain experience in this complex field, a center of excellence must be established that covers all aspects of these conditions such as diagnosis, treatment and research. The Villa Metabolica at the Children's Hospital of the University of Mainz is dedicated to provide diagnosis and multidisciplinary management for all patients affected by any of the about 50 known lysosomal storage disorders. This short communication will give an introduction of the activities of this institution.

show abstract

Using the International Gaucher Disease Registry data: Can we devise a virtuous circle for treated patients?

Cited by 4 publications

References 24 publications

Enzyme replacement therapy for mild patients with Gaucher disease

Enzyme replacement therapy for mild patients with Gaucher disease

Hemorrhagic Aspects of Gaucher Disease

Villa Metabolica – a center of excellence for the diagnosis and treatment of lysosomal storage disorders

Contact Info

Product

Resources

About