Consenso para la Enfermedad de Gaucher: Grupo Argentino de diagnóstico y tratamiento de la Enfermedad de Gaucher

DRELICHMAN G; BASACK NORA; FERNANDEZ ESCOBAR NICOLAS; WATMAN N; BOLESINA MOIRA; ELENA GRACIELA; VEBER SAMUEL ERNESTO; KOHAN REGINA; DRAGOSKY MARTA; ANNETTA ISABEL; FELIU A; SCIUCCATI GABRIELA; CUELLO MARÌA FERNANDA; FYNN ALCIRA; DODELSON DE KREMER RAQUEL; ANGARONI CELIA; GINER-AYALA ALICIA; OLLER DE RAMIREZ ANA MARÍA; GUELBERT NORBERTO; DELGADO MARÍA ANDREA; BECERRA ADRIANA; OLIVERI B; LARROUDÉ MARÍA SILVIA

Hematologia, Suplemento Enfermedad de Gaucher

SOCIEDAD ARGENTINA DE HEMATOLOGIA

Año: 2013 p. 25 - 60

2250-8309

Gaucher disease is the most common lysosomal storage disease. It is a multisystem chronic and progressive disorder. The determination of a decreased acid ß-GA is mandatory for the diagnosis and it is essential before initiating enzyme replacement therapy (ERT).The presence of Gaucher cells in the liver, lymph nodes and bone marrow biopsy specimens guides to the diagnosis but does not replace the determination of the enzyme activity. From the analysis of previous published papers we conclude that enzyme replacement therapy with Imiglucerase is the current standard therapy which has significantly improved the quality of life of patients with type I Gaucher disease. Treatment of Gaucher disease is life-long. The establishment of therapeutic goals encourage patients to adhere to treatment and minimizes interruptions. Achievement of therapeutic goals serves as a marker to evaluate the consequences of changes or adjustments in the therapeutic regimen. The dose adjustment or the frequency of the administration only should be considered when the most relevant therapeutic goals have been achieved , which should be maintained with each modification of the therapeutic regimen. The lost of any of the therapeutic goals indicates a failure of the treatment modification, although it should be considered the possibility of an intercurrent condition which could confound the analysis of the evolution of the disease. The individualized treatment of Gaucher I patients with ERT under the guidance of an experienced multidisciplinary team, specialized in metabolic diseases is the most efficient and cost-effective method to improve the health of patients with Gaucher I disease. Nevertheless it is difficult to integrate the updated scientific information available, related to diagnostic techniques, initial dose, maintenance, and treatment suspension. This can give rise to contradictory conclusions, variations in clinical practise , inadequate treatments and less efficient cost-effective practises. For these reasons it becomes necessary to organize and study critically the available information , in order to be able to generate recommendations in agreement with the scientific evidence and with the national facts in the managements of this pathologies. The present work represents the evaluation of the updated scientific information, which will be revised, analysed and amplified periodically.