ABSTRACT
BACKGROUND: Bone involvement in type 1 Gaucher"s disease can be devastating and is oftenly silent. Bone MR is generally recommended. 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.
Subject(s)
Bone Diseases, Metabolic/diagnosis , Gaucher Disease/diagnosis , Bone Diseases, Metabolic/etiology , Bone Diseases, Metabolic/therapy , Female , Follow-Up Studies , Gaucher Disease/complications , Gaucher Disease/therapy , Humans , Magnetic Resonance Imaging , Male , Quality of Health Care , Spain/epidemiology , Surveys and QuestionnairesABSTRACT
Introducción: La afectación ósea de la enfermedad de Gaucher (EG) tipo 1 es invalidante y silente, para su diagnóstico debe realizarse resonancia magnética (RM) sistemáticamente. El objetivo del estudio fue saber si el tipo de hospital implica diferencias en el uso de medios diagnósticos en la EG. Material y métodos: Se analizan los recursos diagnósticos disponibles y su empleo en la afectación ósea según el tipo de hospital. Resultados: Treinta y un pacientes de hospitales de referencia y 16 de comarcales. El 70 por ciento de los casos presentaban afectación ósea (formas graves el 60 por ciento). La RM se empleó en el diagnóstico inicial (65 por ciento), y el seguimiento (93 por ciento) especialmente en hospitales de referencia. La determinación de quitotriosidasa se emplea el 60 por ciento de los casos en seguimiento. Conclusiones: La red de hospitales públicos españoles está suficientemente dotada para la atención de pacientes con EG en todos sus niveles asistenciales, aunque se infrautilizan los recursos disponibles (AU)
