Estudio de calidad del diagnóstico y seguimiento de los trastornos esqueléticos asociados a la enfermedad de Gaucher tipo 1 en España

Background: bone involvement in type 1 Gaucher’s disease can be devastating and is oftenly silent. Bone MR is generally recomended. The aim of the study was to elucidate whether the size and location of hospitals in Spain implies any difference in management of GD patients. Material and methods: we surveyed the type of facilities in the hospital (namely MRI) as well as for the presence, type, severity and methodology of follow-up of bone involvement associated to GD, according to the category of hospital (local or reference). Results: 31 patients were followed in reference hospitals whereas 16 other were in local hospitals. 70% of cases had some type of bone involvement, 60% had severe bone disease. MRI was the first choice for diagnosis in 65% and for follow-up in 93% of cases. MRI is less indicated among patients from local hospitals. Chitotriosidase is measured in a high, but insufficient, proportion of the followed patients (60%). Conclusions: the Spanish hospital network, either reference or local hospitals, have an adequate infrastructure for the management of GD patients. However, main diagnostic resources are being currently underused.