title: The management of Gaucher disease in developing countries: a successful experience in Southern Brazil.
abstract: OBJECTIVE
  Gaucher disease (GD) is a genetic disease caused by glucocerebrosidase deficiency. GD is treated by enzyme replacement therapy (ERT) with imiglucerase, a high-cost drug provided by the Brazilian Ministry of Health (BMH). This study reports the implementation of the BMH guidelines for GD in the southernmost state of the country.
  
  
  METHODS
  We review the clinical and laboratorial data for patients seen at the reference center for GD from Rio Grande do Sul, Brazil (July 2003 to June 2006).
  
  
  RESULTS
  Twenty-five patients were included in this study. At baseline, 19/20 were on ERT (mean dosage of imiglucerase = 51.8 U/kg/infusion), 3/17 presented anemia, and 5/16 thrombocytopenia. The amount of imiglucerase prescribed to these patients was adjusted according to the guidelines in July 2003; out of them, 18 were receiving ERT in the reference center at month 36 (mean dosage of imiglucerase = 27.5 U/kg/infusion), 2/18 presented anemia, and 4/18 presented thrombocytopenia. The analysis of the liver, spleen, and bone data presented some limitations, but the available information suggests that patients did not deteriorate. GD patients who initiated ERT after July 2003 (n = 5) received lower dosage of imiglucerase since the beginning of the treatment; most of them demonstrated clinical and laboratorial response. From baseline to month 36, the consumption of imiglucerase by the reference center showed a significant reduction, which represented savings of USD 3 million to the public health system.
  
  
  CONCLUSIONS
  The model of care of GD patients suggested by the BMH guidelines appears to be cost-effective and could be an example for management of rare diseases in underdeveloped countries.
authors.affiliation: Hospital de Clínicas de Porto Alegre HCPA, Porto Alegre, Brazil. bkrug@terra.com.br
authors.forename: B C
authors.initials: BC
authors.lastname: Krug
authors.forename: I V
authors.initials: IV
authors.lastname: Schwartz
authors.forename: F
authors.initials: F
authors.lastname: Lopes de Oliveira
authors.forename: T
authors.initials: T
authors.lastname: Alegra
authors.forename: N L
authors.initials: NL
authors.lastname: Campos Martins
authors.forename: L A
authors.initials: LA
authors.lastname: Todeschini
authors.forename: P D
authors.initials: PD
authors.lastname: Picon
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D019468:Disease Management; D056947:Enzyme Replacement Therapy; D005260:Female; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D008099:Liver / Q000187:drug effects / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010349:Patient Compliance; D017410:Practice Guidelines as Topic; D013154:Spleen / Q000187:drug effects / Q000473:pathology; D011795:Surveys and Questionnaires
chemical_list: D005962:Glucosylceramidase; C090568:imiglucerase