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Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports

Overview of attention for article published in Journal of Medical Case Reports, January 2018
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Title
Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports
Published in
Journal of Medical Case Reports, January 2018
DOI 10.1186/s13256-017-1541-7
Pubmed ID
Authors

Dominick Amato, Mary Anne Patterson

Abstract

Intravenous enzyme replacement therapy is a first-line therapy for Gaucher disease type 1, and substrate reduction therapy represents an oral treatment alternative. Both enzyme replacement therapy and substrate reduction therapy are generally used as monotherapies in Gaucher disease. However, one randomized study and several case reports have described combination therapy over short time periods. We report two female Gaucher disease type 1 patients of mainly Anglo-Saxon descent, where combined enzyme replacement therapy and miglustat substrate reduction therapy were administered to overcome refractory clinical symptoms. The first patient was diagnosed at age 17 and developed Gaucher disease-related bone manifestations that worsened despite starting imiglucerase enzyme replacement therapy. After switching to miglustat substrate reduction therapy, her bone symptoms improved, but she developed tremors and eventually switched back to enzyme replacement therapy. Miglustat was later recommenced in combination with ongoing enzyme replacement therapy due to continued bone pain, and her bone symptoms improved along with maintained visceral manifestations. Enzyme replacement therapy was subsequently tapered off and the patient has since been successfully maintained on miglustat. The second patient was diagnosed aged 3, and commenced imiglucerase enzyme replacement therapy aged 15. After 9 years on enzyme replacement therapy she switched to miglustat substrate reduction therapy and her core symptoms were maintained/stable for 3 years. Imiglucerase enzyme replacement therapy was later added as a boost to therapy and her symptoms were subsequently maintained over a 2.3-year period. However, miglustat was discontinued due to her relocation, necessitating an increase in enzyme replacement therapy dose. Overall, both patients benefited from combination therapy. While the majority of Gaucher disease type 1 patients will not need treatment with both substrate reduction therapy and enzyme replacement therapy, the current case reports demonstrate that judicious use of combination therapy may be of benefit in some cases.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 14 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 3 21%
Student > Master 3 21%
Student > Doctoral Student 2 14%
Student > Ph. D. Student 2 14%
Other 1 7%
Other 1 7%
Unknown 2 14%
Readers by discipline Count As %
Nursing and Health Professions 3 21%
Pharmacology, Toxicology and Pharmaceutical Science 2 14%
Agricultural and Biological Sciences 2 14%
Medicine and Dentistry 2 14%
Unspecified 1 7%
Other 3 21%
Unknown 1 7%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 21 February 2018.
All research outputs
#10,037,056
of 12,544,629 outputs
Outputs from Journal of Medical Case Reports
#1,128
of 2,062 outputs
Outputs of similar age
#202,420
of 271,276 outputs
Outputs of similar age from Journal of Medical Case Reports
#1
of 1 outputs
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