title: Outcome of Gaucher Disease in India: Lessons from Prevalent Diagnostic and Therapeutic Practices.
abstract: OBJECTIVE
  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.
authors.affiliation: Genetic Clinic, Department of Pediatrics, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India. Correspondence: Dr Mamta Muranjan, Flat 301, 3rd floor, Suman Apartments, 16 B, Naushir Bharucha Road, Tardeo, Mumbai 400 007, India. muranjanmamta@rediffmail.com.
authors.forename: Mamta
authors.initials: M
authors.lastname: Muranjan
authors.forename: Smita
authors.initials: S
authors.lastname: Patil
mesh_terms: D002648:Child; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology / Q000503:physiopathology; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D016896:Treatment Outcome