Dental profile of patients with Gaucher disease

Each patient received a complete oral and periodontal examination in addition to a routine hematological evaluation.Gaucher patients had significantly fewer carious lesions than otherwise healthy carriers. Despite prevalence of anemia, there was no increase in gingival disease; despite the high incidence of thrombocytopenia, gingival bleeding was not noted; and despite radiological evidence of bone involvement, there was no greater incidence loss of teeth or clinical tooth mobility.These data represent the first survey of the oral health of a large cohort of patients with Gaucher disease. It is a pilot study of a unique population and the results of the investigation are indications for further research. Based on our findings, we recommend regular oral examinations with appropriate dental treatment for patients with Gaucher disease as for other individuals. Consultation between the dentist and physician, preferably one with experience with Gaucher disease, should be considered when surgical procedures are planned.Gaucher disease, the most prevalent lysosomal storage disorder, is a result of the genetic defect in production of the enzyme β-glucocerebrosidase, and the consequent accumulation of the glycolipid, glucocerebroside, in the cells of the monocyte-macrophage system [1]. The clinical heterogeneity, which marks all forms of Gaucher disease, is attributable, to a large extent, to the more than 200 mutations, including point mutations, insertions, deletions, and cross-overs, within the glucocerebrosidase gene [2]. Classically, three clinical forms have been delineated, based on the absence (type I) or presence (types II and III) of neurological signs.Type I, the non-neuronopathic form, is the most common, with an ethnic predilection for Ashkenazi Jews. Onset of symptoms is noted in all ages; neonates as well as in the elderly. Clinical heterogeneity is characteristic of type I and the course of the disease is variable. Many patients with this type are virtually a