Outcome of Gaucher Disease in India: Lessons from Prevalent Diagnostic and Therapeutic Practices.
Article
in English
| IMSEAR
| ID: sea-179160
ABSTRACT
Objectives:
To study disease severity and response to enzyme replacement therapy in Gaucher disease.Methods:
Updated data was captured from records of 37 patients (35 reported previously) with confirmed diagnosis of Gaucher disease from January 1995 through December 2011 (31, 83.8 %) and prospectively from January 2012 through June 2013 (6, 16.2 %). Severity of manifestations was determined by Gaucher disease Severity Score Index. Response to enzyme replacement therapy was assessed in terms of attainment of therapeutic goals.Results:
Moderate to severe manifestations (domain score of > 2) were observed in treated patients at baseline (83%, 58%, 66% and 25% for anemia, thrombocytopenia, hepatomegaly and leucopenia, respectively and 100% for splenomegaly and elevated plasma chitotriosidase). None of the 11 patients treated with synthetic enzyme (average annual dose 23 to 53 units/kg) attained all therapeutic goals in the recommended time frame, particularly the visceral, skeletal and growth domains.Conclusions:
Early onset of moderate to severe disease in Indian patients mandates early therapy with optimum doses to ensure attainment of all recommended therapeutic goals.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Type of study:
Diagnostic study
Language:
English
Year:
2016
Type:
Article
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